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Articles

Read the latest articles relevant to your clinical practice, including exclusive insights from Healthed surveys and polls.

By reading selected clinical articles, you earn CPD in the Educational Activities (EA) category whenever you click the “Claim CPD” button and follow the prompts. 

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Dr Linda Calabresi
  • Clinical Articles

Meat no more

Bad news for steak lovers. The latest findings from two very large, well-known prospective cohort studies show that increasing your intake of red meat, even if it’s only by half a serving a day, significantly increases your risk of death. And the increased mortality risk is independent of how much red meat you were eating to start with, what other lifestyle factors you make at the same time you increase your red meat intake or whether the meat is processed or unprocessed, although the association was stronger for processed meat, according to the research recently published in The BMJ. The researchers were analysing data from Nurses’ Health Study (over 53,000 women) and the Health Professionals Follow-up study (involving almost 28,000 men). Both US studies included repeated measures of diet and lifestyle factors, so the study authors were able to determine that increases in red meat consumption of at least half a serving a day over eight years was associated with a 10% higher mortality risk over the next eight years. The increase in deaths was generally related to cardiovascular or neurodegenerative disease. It’s been known for some time that eating lots of red meat is not good for you, increasing your risk of chronic diseases and premature death. What we haven’t known (until now) is what difference changing your consumption of red meat over time does to this increased health risk. Interestingly the analysis also found a decrease in red meat consumption was not associated with mortality. But if the meat intake was replaced by a healthy alternative then your risk of dying prematurely is lowered. “A decrease in total red meat consumption and a simultaneous increase in the consumption of nuts, fish, poultry without skin, dairy, eggs, whole grains, or vegetables over eight years was associated with a lower risk of death in the subsequent eight years,” they said. So it really is yet another nail in the coffin for the traditional Aussie high meat diet. “Our analysis provides further evidence to support the replacement of red and processed meat consumption with healthy alternative food choices,” they concluded.  

Reference:

Zheng Y, Li Y, Satija A, Pan A, Sotos-Prieto M, Rimm E, et al. Association of changes in red meat consumption with total and cause specific mortality among US women and men: two prospective cohort studies. BMJ. 2019 Jun 12; 365: I2110. DOI: 10.1136/bmj.l2110
By Dr Linda Calabresi
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Dr Evangeline Mantzioris
  • Clinical Articles

How to get the nutrients you need without eating as much red meat

If you’re a red meat-eater, there’s a good chance you’re eating more of it than you should. At last count, Australians ate an average of 81 grams of red meat per day. The planetary health diet was developed by researchers to meet the nutritional needs of people around the world, while reducing food production’s environmental impact. It recommends reducing our red meat intake to around 14g a day. That’s around 100g of red meat a week. Australia’s dietary guidelines are more conservative and recommend limiting red meat intake to a maximum of 455g a week, or 65g a day, to reduce the additional cancer risk that comes from eating large quantities of red meat. So, what should you eat instead? And how can you ensure you’re getting enough protein, iron, zinc and vitamin B12?

Protein

Animal sources of protein provide essential amino acids, which the body uses to make muscle, tissue, hormones, neurotransmitters and the different cells and antibodies in our immune system. The planetary health diet offers a good blueprint for gaining enough protein from a variety of other animal sources. It recommends eating, on average:
  • 25g of chicken per day
  • 28g of fish per day day
  • 1.5 eggs per week
  • 200g of milk per day day
  • 50g of cheese per day.
In addition to the 14g of red meat in the planetary health diet, these foods would provide a total of 45g of protein per day, which is around 80% of our daily protein needs from animal sources. The remaining protein required (11g) is easily met with plant foods, including nuts, legumes, beans and wholegrains.

Iron

Iron is essential for many of the body’s functions, including transporting oxygen to the blood. Iron deficiency can lead to anaemia, a condition in which you feel tired and lethargic. Pre-menopausal women need around 18 milligrams a day, while men only need 8mg. Pre-menopausal women need more iron because of the blood they lose during menstruation. So, how can you get enough iron? Beef, of course, is a rich source of iron, containing 3.3mg for every 100g. The same amount of chicken breast contains 0.4mg, while the chicken thigh (the darker meat) contains slightly higher levels, at 0.9mg. Pork is similarly low in iron at 0.7mg. But kangaroo will provide you with 4.1mg of iron for every 100g. Yes, kangaroo is a red meat but it produces lower methane emissions and has one-third the levels of saturated fat than beef, making it a healthier and more environmentally friendly alternative. Plant protein sources are also high in iron: cooked kidney beans have 1.7mg and brown lentils have 2.37mg per 100g. If you wanted to cut your red meat intake from the 81g average to the recommended 14g per day while still getting the same amount of iron, you would need to consume the equivalent of either 50g of kangaroo, 100g of brown lentils or 150g of red kidney beans per day.

Zinc

Zinc is an essential mineral that helps the body function optimally. It affects everything from our ability to fight bugs, to our sense of smell and taste. Zinc requirements are higher for men (14mg a day) than women (8mg a day) due to zinc’s role in the production and development of sperm. Of all meat sources, beef provides the most zinc, at 8.2mg per 100g. Chicken breast provides just 0.68mg, while the chicken thigh has 2mg. In kangaroo meat, the levels of zinc are lower than beef, at 3.05mg. The richest source of zinc is oysters (48.3mg). Beans such lentils, red kidney beans and chickpeas all provide about 1.0mg per 100g. To meet the shortfall of zinc from reducing your red meat intake, you could eat 12 oysters a day, which is unlikely. Or you could eat a combination of foods such as 150g of red kidney beans, one serve (30g) of zinc-supplemented cereals like Weet-bix, three slices of wholegrain bread, and a handful of mixed nuts (30g).

Vitamin B12

Vitamin B12 is important for healthy blood and nerve function. It’s the nutrient of most concern for people cutting out meat products as it’s only found in animal sources. Requirements of vitamin B12 are the same for both women and men at 2.4 micrograms (mcg) a day. Beef and kangaroo provide 2.5mcg per 100g serve, while chicken and turkey provide about 0.6mcg. Dairy products also contain vitamin B12. One glass of milk would give you half your daily requirement requirement (1.24mcg) and one slice of cheese (20g) would provide one-fifth (0.4mcg). Vitamin B12 can be found in trace amounts in spinach and fermented foods, but these levels aren’t high enough to meet your nutritional needs. Mushrooms, however, have consistently higher levels, with shiitake mushrooms containing 5mcg per 100g. To meet the shortfall of vitamin B12 from reducing red meat intake, you would need to eat 75g kangaroo per day or have a glass of milk (200ml) plus a slice of cheese (20g). Alternatively, a handful of dried shiitake mushrooms in your salad or stir-fry would fulfil your requirements.

Don’t forget about fibre

A recent study found fibre intakes of around 25 to 29g a day were linked to lower rates of many chronic diseases such as coronary heart disease, type 2 diabetes, stroke and bowel cancer. Yet most Australian adults currently have low dietary fibre levels of around 20g a day. By making some of the changes above and increasing your intake of meat alternatives such as legumes, you’ll also be boosting your levels of dietary fibre. Substituting 100g of lentils will give you an extra 5g of fibre per day. With some forward planning, it’s easy to swap red meat for other animal products and non-meat alternatives that are healthier and more environmentally sustainable.The Conversation Evangeline Mantzioris, Program Director of Nutrition and Food Sciences, University of South Australia This article is republished from The Conversation under a Creative Commons license. Read the original article.
By Dr Evangeline Mantzioris
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Dr Linda Calabresi
  • Clinical Articles

Quality improvement in aged care

If you look after patients in an aged care facility you should really have a look at this resource. It’s from the Australian Government’s Department of Health and it basically gives you all you need to know about the most recent initiative to ensure high standard of care in these facilities. From July 1, all aged care facilities that receive government subsidies for the services they provide will need to collect and provide data on three specific adverse outcomes that residents might experience. Specifically the government is asking these facilities to record information on pressure injuries, use of physical restraint and unplanned weight loss because these are indicators of clinical quality, or more exactly indicators of poor clinical quality. Every three months residential facilities will need to submit this Quality Indicator (QI) data to the Department of Health which will generate a report. So where do GPs fit in? According to the resource information, GPs will need to get involved in making sure facilities proactively respond to this QI information. The actions GPs are being asked to take are mainly about getting engaged in the programme – ask questions, ask to see the 3-monthly QI reports and help with the interpretation of the information from these reports. It will also be important that GPs contribute ideas on how to improve care. Even though this new initiative is only looking at three indicators, and there are many more that could be considered such as pain and falls, these three were chosen because they each have a broad impact across a number of other care areas – these are the canaries in the mine so to speak. Improve these and a whole lot of other areas of care improve as well. It’s not our usual type of recommended resource but if you’re a GP looking after patients in aged care you will recognise how this initiative could be very important to the health of our elderly patients. Check it out.   >> Access the resource here

By Dr Linda Calabresi
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Dr Linda Calabresi
  • Clinical Articles

Anorexia and cancer risk

You’d think having anorexia nervosa was bad enough. But among all the negative effects it can have on your body, could it also increase your risk of cancer? Or does the condition perversely mimic the caloric restriction and fasting that have been demonstrated to benefit the prevention of some malignancies - meaning could it protect against cancer? That's what European oncology researchers wanted to find out through their systematic review and meta-analysis of a series of studies involving more than 42,000 people with the eating disorder. The result was both encouraging and intriguing. It appears that overall there was no association of anorexia nervosa with risk of cancer. But that’s not the whole story. On further analysis it appears anorexia nervosa was associated with some cancers and not others. In some cases the condition increased the risk and in others it appeared protective, hence the balancing out effect of no association overall. “Findings from our meta-analysis suggest that anorexia nervosa was associated with decreased breast cancer incidence compared with the general female population, with high confidence,” said the study authors in JAMA Network Open. And on the down side, the researchers found anorexia nervosa appeared to be associated with an increased risk of developing lung and oesophageal cancer, although the evidence was less compelling than that for breast cancer. As the authors point out, the breast cancer protection makes sense in terms of physiology. Anorexia notoriously interferes with a woman’s hormones, reducing her levels of oestradiol as well as insulin-like growth factor 1. Women with anorexia often have delayed puberty, early menopause and an overall decreased lifetime exposure to oestrogen so it stands to reason that a hormone-sensitive cancer, such as breast cancer is less likely to develop. But the increased risk of lung and oesophageal cancer is harder to explain. One might think, given the types of cancer we’re talking about that perhaps there was a greater prevalence of smoking among people with anorexia nervosa. But no. “[T]he increased risk of developing lung or oesophageal cancer does not seem to be attributable to a higher prevalence of smoking among women with anorexia nervosa,” they said. Interestingly the authors refer to a 2016 meta-analysis that determined smoking prevalence was much higher among people with bulimia nervosa than the general population, but not anorexia nervosa. The researchers offer no explanation for the association between anorexia and lung and oesophageal cancer, conceding the evidence isn’t strong. However they do warn that the findings suggest perhaps a need for greater vigilance in investigating symptoms suggestive of cancers of either the respiratory tract or the GIT in anorexia nervosa patients. As with most studies, the study authors call for further research to confirm or refute these associations, suggesting that the findings have possibly important implications. “Understanding the mechanisms underlying these associations could have important preventive potential,” they concluded.  

Reference:

Catalá-López F1, Forés-Martos J, Driver JA, Page MJ, Hutton B, Ridao M, et al. Association of Anorexia Nervosa With Risk of Cancer: A Systematic Review and Meta-analysis. JAMA Netw Open. 2019; 2(6): e195313. DOI: 10:1001/jamanetworkopen.2019.5313
By Dr Linda Calabresi
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Dr Linda Calabresi
  • Clinical Articles

Help for women with vulval issues

Female patients who present with vulval pain or itch have usually put up with symptoms for some time before coming to the doctor. When it comes to this area of the female anatomy there is still a lot of ignorance and embarrassment in the world outside our surgeries. And while it is true you can find the answer to almost any question on the net, for these particular problems there’s a lot of dodgy information out there. So here’s an information source you can trust and recommend. Care down there (www.caredownthere.com.au) is a consumer-directed website written by respected health professionals that provides accurate, up-to-date and practical information and advice about all things vulval. From herpes to vulval sclerosis, the site covers the broad range of conditions that can affect women as well as providing some fundamental education about how to distinguish between normal anatomy and physiology and something going awry. The site was founded by Dr Gayle Fischer and Dr Jennifer Bradford who are well-known, well-respected members of the Australasian College of Dermatologists and the Royal Australian and the New Zealand College of Obstetricians and Gynaecologists. The content has been developed by a group of Australian health professionals with an interest and experience in vulval problems including dermatologists, gynaecologists, a pain management specialist, a sexual health physician, a psychologist and a pelvic floor physiotherapist. It is sponsored by Epiderm but exists as an independent resource. If you’re wanting to direct your female patients to a resource that is both comprehensive and authoritative, this really does fit the bill.   >> Access the resource here

By Dr Linda Calabresi
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Dr Linda Calabresi
  • Clinical Articles

Are you burnt out at work? Ask yourself these 4 questions

It’s normal to feel stressed at work from time to time. But for some people, the stress becomes all-consuming, leading to exhaustion, cynicism and hatred towards your job. This is known as burnout. Burnout used to be classified as a problem related to life management, but last week the World Health Organisation re-labelled the syndrome as an “occupational phenomenon” to better reflect that burnout is a work-based syndrome caused by chronic stress. The newly listed dimensions of burnout are:
  • feelings of energy depletion or exhaustion
  • increased mental distance from one’s job, or feelings of negativism or cynicism related to one’s job
  • reduced professional efficacy (work performance).
In the era of smartphones and 24-7 emails, it’s becoming increasingly difficult to switch off from the workplace and from those who have power over us. The new definition of burnout should be a wake-up call for employers to treat chronic stress that has not been successfully managed as a work health and safety issue.

How do you know if you’re burnt out?

If you think you might be suffering burnout, ask yourself the following questions:
  1. has anyone close to you asked you to cut down on your work?
  2. in recent months have you become angry or resentful about your work or about colleagues, clients or patients?
  3. do you feel guilty that you are not spending enough time with your friends, family or even yourself?
  4. do you find yourself becoming increasingly emotional, for example crying, getting angry, shouting, or feeling tense for no obvious reason?
If you answered yes to any of these questions, it might be time for change. These questions were devised for the United Kingdom Practitioner Health Programme and are a good starting point for all workers to identify if you are at risk of burning out. (You can also complete the British Medical Association’s online burnout questionnaire, although it’s tailored for doctors so the drop-down menu will ask you to select a medical specialty). If you think you’re suffering burnout, the first step is to talk to your line manager or workplace counsellor. Many workplaces now also have confidential external psychologists as part of their employee assistance programme.
Wes Mountain/The Conversation, CC BY-ND

What causes burnout?

We all have different levels of capacity to cope with emotional and physical strains. When we exceed our ability to cope, something has to give; the body becomes stressed if you push yourself either mentally or physically beyond your capacity. People who burn out often feel a sense of emotional exhaustion or indifference, and may treat colleagues, clients or patients in a detached or dehumanised way. They become distant from their job and lose the zeal for their chosen career. They might become cynical, less effective at work, and lack the desire for personal achievement. In the long term, this is not helpful for the person or the organisation. While burnout isn’t a mental health disorder, it can lead to more serious issues such as family breakdowns, chronic fatigue syndrome, anxiety, depression, insomnia, and alcohol and drug abuse.

Who is most at risk?

Any worker who deals with people has the potential to suffer from burnout. This might include teachers, care workers, prison officers or retail staff. Emergency service workers – such as police, paramedics, nurses and doctors – are at even higher risk because they continually work in high-stress conditions. A recent survey of 15,000 US doctors found 44% were experiencing symptoms of burnout. As one neurologist explained:
I dread coming to work. I find myself being short when dealing with staff and patients.
French research on hospital emergency department staff found one in three (34%) were burnt out because of excessive workloads and high demands for care. Lawyers are another profession vulnerable to burnout. In a survey of 1,000 employees of a renowned London law firm, 73% of lawyers expressed feelings of burnout and 58% put this down to the need for a better work-life balance. No matter what job you do, if you are pushed beyond your ability to cope for long periods of time, you’re likely to suffer burnout.

It’s OK to say no to more work

Employers have an organisational obligation to promote staff well-being and ensure staff aren’t overworked, overstressed, and headed towards burnout. There are things we can all do to reduce our own risk of burnout. One is to boost our levels of resilience. This means we’re able to respond to stress in a healthy way and can bounce back after challenges and grow stronger in the process. You can build your resilience by learning to switch off, setting boundaries for your work, and thinking more about play. As much as you can, inoculate yourself against job interference and prevent it from ebbing into your personal life. No matter what your profession, don’t let your job become the only way you define yourself as a person. And if your job is making you miserable, consider moving jobs or at least have a look at what else is out there. You may surprise yourself. If you or anyone you know needs help or support, you can call Lifeline on 13 11 14.The Conversation Michael Musker, Senior Research Fellow, South Australian Health & Medical Research Institute This article is republished from The Conversation under a Creative Commons license. Read the original article.
By Dr Linda Calabresi
vcacinations in pregnancy
Dr Linda Calabresi
  • Clinical Articles

Improving vaccination rates in pregnancy

Increasingly, pregnant women are heeding the warnings about the dangers of pertussis and getting vaccinated but the same does not appear to be happening with influenza protection. According to an Australian retrospective analysis, pertussis vaccination of pregnant women in Victoria increased from 38% in 2015 to 82% two years later. However, when they looked at rates of influenza vaccination the prevalence fluctuated according to the season but even so, the overall rate was only 39%. Looking first at the factors that appeared to influence whether a woman got vaccinated at all, the researchers found women who were older, who were having their first child, attended antenatal care earlier in the pregnancy and who were receiving GP-led care were more likely to receive immunisation (thumbs up for the GPs). On the negative side, the likelihood of vaccination was significantly lower in women born overseas, those who smoked during pregnancy and among Aboriginal and Torres Strait Islander women. Overall it appeared the more contact a pregnant woman had with the health system, especially if that contact was with health professionals who are well-versed in all things immunisation, ie GPs, the more likely it was that vaccination would be offered, accepted and delivered. The variation in coverage rates across different hospital-led organisations reflects the fact that immunisation for flu and pertussis has not yet become part of standard, best practice guidelines for routine antenatal care. “Fewer than half the respondents indicated that vaccines were always or usually administered during routine antenatal care,” they wrote. Following on from these general observations, researchers tried to determine why it was that vaccination coverage for pertussis rose so dramatically between 2015 and 2017, and why coverage for influenza prevention didn’t. “This may reflect continued promotion by state and national bodies of the importance of maternal pertussis vaccination, and increased awareness among pregnant women of the seriousness of pertussis in infants,” they said. By contrast, the researchers suggest that influenza is often believed to pose a greater health risk to the mother as opposed to the infant, and this along with concerns about the safety of the flu vaccine itself may, at least in part, explain the poor uptake of this vaccine. To improve this situation and increase rates of protection for Australian pregnant women and their children, the study authors had a number of recommendations. Most importantly they suggest we need to build vaccination against pertussis and influenza into the standard of care for all antenatal practices – be they hospital based, midwife-led or part of the GP antenatal shared care program. Basically we need to bring vaccination up and centre into our consciousness, so women get offered the vaccine and then ensure our systems have the capacity to be able to provide this vaccination as the opportunity arises. “Maternal vaccination should be embedded in all antenatal care pathways, and systems should be improved to increase the uptake of vaccination by pregnant women,” they conclude. Other recommendations included highlighting the benefits of vaccination to those groups of women most at risk such as women who smoke and Aboriginal and Torres Strait Islander women. But key to all the recommendations is making vaccination just part of routine care. As an accompanying editorial points out, “Embedding vaccination into standard pregnancy care, whether delivered by GPs, midwives or obstetricians, normalises the process, improves access to vaccination and reduces the risk of missing opportunities for vaccination.”  

References:

Rowe SL, Perrett KP, Morey R, Stephens N, Cowie BC, Nolan TM, et al. Influenza and pertussis vaccination of women during pregnancy in Victoria, 2015-2017. Med J Aust 2019 Jun 3; 210(10): 454-62. DOI: 10.5694/mja2.50125 Marshall HS, Amirthalingam G. Protecting pregnant women and their newborn from life-threatening infections. Med J Aust 2019 Jun 3; 210(10): 445-6. DOI: 10.5694/mja2.50174
By Dr Linda Calabresi
Simple blood test a mortality predictor
Dr Linda Calabresi
  • Clinical Articles

Smartvax

It’s only been around a few years, but this little bit of technology has already received world wide acclaim for its ability to improve the safety of vaccines in the real-world setting. In simple terms, Smartvax is a program practices install into their software system that sends an SMS directly to patients three days after they receive a vaccination. Patients are asked if they experienced an adverse reaction to the vaccine. A straightforward Yes (Y) or No (N) is all that is required. A No reply ends the conversation, but a Yes will trigger a brief questionnaire that examines the nature of the adverse reaction. If the reaction resulted in the need to seek medical attention this is then flagged in the GP’s software inbox as well as with the local health authority. In practical terms this means adverse reactions are tracked in real time and act as an early warning signal that something could be amiss with a vaccine. Smartvax was developed by Perth GP, Dr Alan Leeb and Ian Peters, following a spate of serious and unexpected adverse reactions among young children who received one brand of flu vaccine back in 2010. It was apparent that a better, more time-sensitive system of monitoring side effects to vaccines was needed to ensure the safety of patients. With the widespread use of mobile phones, the day three post vax text has proven a very effective means of tracking reactions, with a high level of acceptance by patients. In a study from one NSW general practice, the response rate to the SMS  text was 85% post-childhood vaccination, and even in the over 65 year age range the response rate was 74%. Smartvax has now been adopted by more than 280 practices around Australia. The technology can also be used as a reminder system to prompt patients when their next vaccine is due. This is such a clever idea and as general practice becomes more and more tech savvy one can envisage a day when Smartvax is a basic requirement for all clinics that provide vaccinations.   >> Access the resource here

By Dr Linda Calabresi
shutterstock_1467369743
Dr Linda Calabresi
  • Clinical Articles

Gene-directed prescribing coming to general practice

It’s been around for some time now. The idea of checking a person’s genes to guide appropriate prescribing is not new. It is pretty much standard practice when treating many if not most cancers. But pharmacogenomics in general practice? Looking at an individual’s genetic variants to work out the best treatment for their depression, high cholesterol or gout? Yes – it’s coming. As authors of a recently published review in the Australian Journal of General Practice say, all practising clinicians will have had the experience of patients responding differently to medications despite every indication the medication should be effective, based on all the evidence from randomised controlled trials. It is known that certain genes that regulate the absorption, distribution, metabolism and excretion (ADME) of medications are commonly responsible for this difference in response, as these genes can vary between individuals. Researchers have also identified another group of genes that can influence medication responses directly, which, while less common can have important implications for prescribing. “For example, carbamazepine should not be prescribed to patients with certain human leucocyte antigen (HLA) genotypes because of an increased risk of Stevens-Johnson syndrome and toxic epidermal necrolysis,” the Australian review authors said. Overall, there have been at least 15 genes identified for which testing can be useful and clinically beneficial in guiding prescribing of 30 different medications. How important will this be in general practice? According to this review at least, very. Firstly the likelihood of having a genetic variation that will influence how a person responds to a common medication is incredibly high. “A recent study of 5400 Australians who underwent testing of just four ADME genes showed that 96% had at least one clinically actionable pharmacogenomic variant,” the review authors said. And then the likelihood that a person will be prescribed one of the drugs that we can now predict the response based on genetic testing is also incredibly high. On analysis of PBS data from 2017, the researchers determined that in that year approximately 1.7 million Australians had filled a prescription for at least one the drugs that has the highest level of evidence of clinically relevant gene-medication association. In their review the authors present a number of case studies which demonstrate the usefulness of genetic testing in clinical practice. These include a patient with anxiety and depression who fails to respond to standard treatment leading to a significant deterioration of her condition. Genetic testing of CYP enzymes found the patient had a genetic variation that meant they rapidly metabolised certain antidepressants, but could be prescribed an alternative medication that wasn’t as dependent on the affected enzyme. Another example involved an older Han Chinese man who needed to be prescribed allopurinol for gout. Because this particular ethnicity has a 20% chance of carrying a gene that puts them at risk of developing severe cutaneous adverse reaction to allopurinol, gene testing was done to help ensure this risk was minimised. Similarly, a genetic variation that gives a higher than normal risk of muscle toxicity when taking simvastatin or atorvastatin can be tested for prior to patients being prescribed these medications, and a safer alternative statin offered. Fundamentally this type of testing will lead to more effective, safer prescribing. The problem is of course, pharmacogenomic testing does not attract a Medicare rebate in Australia and the cost is prohibitive for most patients, even though, according to the review authors the costs are decreasing all the time. A panel of common CYP enzymes now costs between $150 and $200. But the authors suggest this situation will have to change. Even on the basis of economics alone, the government needs to consider allowing rebates for at least some pharmacogenomic tests. “A report in 2008 estimated that the widespread implementation of such testing in Australia could yield savings in excess of $1 billion annually by the avoidance of adverse medication reactions alone,” they said. And imagine how much time, money and angst could be saved if doctors could ensure the first antidepressant a patient is prescribed had a high likelihood of having an effect, rather than the current trial and error approach. However while we wait for better reimbursement for this testing, the authors suggest the doctors consider using the tests where appropriate in patients who are prepared to pay. “Responsible doctors can use the tests and evidence that are already available to improve prescribing decisions for their patients,” they conclude.

Reference

Polasek TM, Mina K, Suthers G. Pharmacogenomics in general practice: The time has come. AJGP. 2019 March; 48(3): 100-5. Available from: https://www1.racgp.org.au/ajgp/2019/march/pharmacogenomics-in-general-practice
By Dr Linda Calabresi
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Dr Kym Mina
  • Clinical Articles

Lactose intolerance and genetic testing

A genetic test is now available to assist in the diagnosis of lactose intolerance in both children and adults.

Key points

  • Lactose intolerance affects approximately 75% of the population.
  • Genetic testing can confirm lactose tolerance (also referred to as lactase persistence).
  • The test differentiates between primary lactose intolerance, due to lactase deficiency, and secondary causes of lactose intolerance, due to other more serious conditions that affect the small bowel.
  • The test is not affected by intercurrent illness and can be performed non-invasively on patients of all ages.
The test only needs to be performed once during a person’s lifetime.

How does the test work?

Testing is now available to detect the genetic variant (LCT-13910C>T) that accounts for close to 100% of lactase persistence in Europeans. Three other genetic variants that have a similar effect and are more common in non-European populations are also detected. These variants are thought to act as enhancers of the lactase gene that in turn stimulates lactase production. When one of these variants is found, a diagnosis of primary lactose intolerance can be excluded. Lactose intolerance can be secondary to other conditions that affect the small bowel, such as gastroenteritis, inflammatory bowel disease and coeliac disease. Genotyping can help to distinguish these causes of intolerance.

What causes lactose intolerance?

Lactose is the major carbohydrate in mammalian milk. Lactose intolerance is caused by deficiency of lactase, the enzyme required for digestion of lactose. Symptoms include abdominal pain, diarrhoea, nausea, flatulence and/or bloating, following the consumption of lactose-containing foods.

Who is affected by lactose intolerance?

After infancy, approximately 75% of the population lose the ability to digest lactose, due to a deficiency in lactase, referred to as primary lactose intolerance. The remainder of people maintain their tolerance for lactose-containing foods because of genetic variants that enable continued production of lactase, referred to as lactase persistence. The prevalence of primary lactose intolerance varies significantly with ethnic background. Lactose intolerance is uncommon in populations that consume large amounts of dairy, for example, northern Europeans (as low as 10%), but is frequent in other populations (as high as 100% in Asiatic countries). It is hypothesised that this is the result of selective genetic advantage; populations that have historically been dependent on dairy food sources for nutrition have survived by having genetic variants that allow tolerance for lactose.

Other testing alternatives

Currently, testing for lactose intolerance can also be performed by a hydrogen breath test with lactose load, or by measurement of intestinal lactase enzyme activity in a biopsy obtained during endoscopy. These tests may give a false-positive result when lactase levels have been affected by a recent viral illness or coeliac disease. These procedures are also not suitable for testing children younger than seven years old. Genotyping is not affected by intercurrent illness and can be performed non-invasively on patients of all ages.

Genetic testing limitations

Please note that genotyping will not identify very rare genetic variants associated with persisting lactase activity, and therefore the absence of a variant can only be used to support a diagnosis of lactose intolerance along with other clinical and laboratory findings.

Arranging a test

  1. Complete a standard pathology request form to refer the patient for ‘lactase persistence’ or ‘lactose intolerance genetic testing’.
  2. Collect or send the patient to a pathology collection centre for a blood test or buccal swab. No special preparation or booking is necessary.
  3. The result is reported back to the doctor, usually within five business days of the laboratory receiving the patient’s sample.

Cost

Medicare does not cover the cost of this test and the patient will receive an invoice for $75.*

References

  • Bayless T, Brown E, Paige DM. Lactase non-persistence and lactose intolerance. Curr Gastroenterol Rep. 2017 May; 19(5): 23. DOI: 10.1007/s11894-017-0558-9
  • Mattar R, de Campos Mazo DF, Carrilho FJ. Lactose intolerance: diagnosis, genetic, and clinical factors. Clin Exp Gastroenterol. 2012; 5: 113-21. DOI: 10.2147/CEG.S32368
  • Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet. 2007 Jan; 39(1): 31-40. DOI: 10.1038/ng1946
  • Heyman MB, Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. Pediatrics. 2006 Sep; 118(3): 1279-86. DOI: 10.1542/peds.2006-1721
*Correct at time of printing. Please to refer to the Sonic Genetics website, www.sonicgenetics.com.au, for current pricing. General Practice Pathology is a regular column each authored by an Australian expert pathologist on a topic of particular relevance and interest to practising GPs. The authors provide this editorial free of charge as part of an educational initiative developed and coordinated by Sonic Pathology.
By Dr Kym Mina
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Prof Alan Pearce
  • Clinical Articles

One in 10 patients have ongoing concussion symptoms

Concussion is a temporary disturbance in brain function following an impact to the head. It can also occur after a blow to the body, if the force is transmitted to the head. Most people associate concussion with sports but they can occur anywhere, even at work or school. There are many signs and symptoms of concussion, which may present differently between individuals. These include headaches, nausea, vomiting, slurred speech, dizziness, temporary loss of memory, and inability to focus. Loss of consciousness only occurs in around 10% of concussions. Most people with concussions recover relatively quickly. Around 90% will recover within several days to a couple of weeks. But sometimes symptoms continue beyond a couple of weeks. When symptoms persist beyond three months, the person may be diagnosed as having persistent post-concussion symptoms.

Rest is not always best

We don’t know exactly how common concussions are, because they’re under-reported. Some people don’t think they are a serious injury, so don’t seek treatment, while others mask their injury because they don’t want to be seen as weak. The World Health Organisation classifies concussion, which is a type of traumatic brain injury, as a critical public health issue. Complete physical and mental rest used to be recommended after a concussion. Since 2017, however, the concussion treatment guidelines have evolved to reflect the science. While rest in the immediate 24-48 hours after a concussion is still advised, patients are now encouraged to undertake low-intensity exercise (such as walking, light jogging, or stationary cycling) and light mental stimulation (such as work or study) over the following days. Recovery is individual, but the intensity of physical and mental activity should gradually increase over time and should not exacerbate or worsen the symptoms.

Persistent symptoms

Formerly known as post-concussion syndrome, persistent post-concussion symptoms occur in around 1-10% those who have suffered a concussion. The exact prevalence is unknown due to methodological differences between studies and how persistent post-concussion symptoms are defined within these studies. As with concussion, persistent post-concussion symptoms vary among individuals but may include headaches, balance problems, light or noise sensitivity, anxiety and depression. We still don’t know why some people’s symptoms persist for many months, sometimes even years. But we suspect psychology may play a role. While the evidence is limited, early psychological intervention for those with ongoing symptoms, which involves educating the person on why they are feeling this way, has been shown to be effective at reducing the anxiety and depression that accompany persistent post-concussion symptoms. Despite psychological support, some express continued physical symptoms, such as headaches, balance problems, and light/noise sensitivity; reflecting possible changes or abnormalities in the brain. Fatigue, both mental and physical, is common in people with persistent post-concussion symptoms, but is often overlooked, despite it significantly impacting on quality of life.

What can measures of fatigue tell us?

Our new research suggests people with persistent post-concussion symptoms may have ongoing problems with fatigue and cognitive function because of changes to the way information is transmitted to and from their brain. We used transcranial magnetic stimulation, a non-invasive brain stimulation technique, to measure participants’ brain function and neural processing. When compared to both age-matched controls, as well as a group of people who have recovered from a previous concussion, we found people with persistent post-concussion symptoms were slower to complete the set activities – and their outcomes were more varied. We have previously compared brain responses via this method in retired Australian Rules and Rugby league players and found abnormal responses compared to other people of the same age with no history of head trauma. The next stage of our research is to better understand who is vulnerable to persistent post-concussion symptoms and how the condition can be treated. We understand how to diagnose and treat concussion in the short term, but we’re yet to uncover how to best assist people with persistent post-concussion symptoms to return to leading productive lives.   Alan Pearce, Associate Professor, School of Allied Health, La Trobe University This article is republished from The Conversation under a Creative Commons license. Read the original article.
By Prof Alan Pearce
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Dr Linda Calabresi
  • Clinical Articles

All benzos risky in pregnancy

Benzos increase the risk of having a miscarriage in early pregnancy, regardless of whether you’re taking a short-acting one for insomnia or a longer-acting one for anxiety, Canadian researchers say. According to their large case-controlled study involving almost 450,000 pregnancies, benzodiazepine exposure in early pregnancy was associated with an 85% higher risk of spontaneous abortion compared to pregnancies where that class of drugs were not taken. And this increased risk remained the same, after a whole range of possible confounders had been adjusted for, including maternal mood and anxiety disorders. But this isn’t the new bit. Previous research, including both a UK population-based study and an Israeli prospective study had confirmed the link between benzos and spontaneous abortion. In Australia, benzodiazepines have been given a Category C rating in terms of safety in pregnancy. (Drugs owing to their pharmacological effects have caused or may be suspected of causing harmful effects on the human fetus or neonate without causing malformations.) “Benzodiazepines cross the placental barrier and accumulate in the fetal circulation at levels that are one to three times higher than the maternal serum levels”, the researchers explained. What hasn’t been known, to date, is whether this is a class effect or are some benzos worse than others. Well – according to this study published in JAMA Psychiatry – ‘the risk was similar among pregnancies exposed to short-acting …and long-acting benzodiazepines during early pregnancy.’ So it didn’t matter if you were prescribed long-acting clonazepam or short-acting lorazepam (interestingly the two most frequently prescribed benzos), the risk was more or less the same. “All benzodiazepine agents were independently associated with an increased risk of [spontaneous abortion],” the study authors said. In addition the study found the risk increased as the daily dose of benzodiazepines increased, suggesting a dose-response effect. So basically the more doses of benzos a pregnant woman takes, either in terms of strength or duration, the greater the risk she will miscarry. Overall, the researchers concluded that pregnant women should avoid taking benzodiazepines, and if they have to take them only take the lowest dose possible for shortest duration possible. “Alternative nonpharmacologic treatments exist and are recommended, but if benzodiazepines are needed, they should be prescribed for short durations,” they concluded.  

Reference

Sheehy O, Zhao JP, Bérard A. Association Between Incident Exposure to Benzodiazepines in Early Pregnancy and Risk of Spontaneous Abortion. JAMA Psychiatry. 2019 May 15. DOI: 10.1001/jamapsychiatry.2019.0963 [Epub ahead of print]  
By Dr Linda Calabresi

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