Scientists seeking NSW volunteers to complete Aussie recruitment of world’s largest anorexia nervosa genetics study

Interim data from the world’s largest and most rigorous genetic investigation into anorexia nervosa reveal less than a third of Australian study participants are under the care of a medical professional, with fasting and exercise their most common methods of weight control.¹

Anorexia Nervosa Genetics Initiative (ANGI) scientists from QIMR Berghofer Medical Research Institute are working rigorously to identify the genes that play a role in causing the serious and potentially life-threatening illness, afflicting an estimated 53,000 Australians.^2,3 With completion of study recruitment fast approaching (July 31, 2016), today marks the release of interim observations, prior to their presentation at next month’s Australian and New Zealand Eating Disorders and Obesity Conference on the Gold Coast.    

According to lead Australian ANGI study investigator, Head of the Genetic Epidemiology group, QIMR Berghofer Medical Research Institute, Professor Nicholas Martin, Brisbane, only 32 per cent of Australian study participants reported being monitored by a medical professional. Furthermore, 82 per cent of study participants with lifetime anorexia nervosa, cited exercise as their most common control behaviour, followed by fasting (72 per cent), and purging (40 per cent).¹

“This study represents the largest sample of Australian individuals with anorexia nervosa to date – information that is providing compelling insights into weight control behaviours, and the ages at which these behaviours typically start.¹

“Our data reveal fasting is the earliest weight control behaviour, commencing at an average age of 15 years, followed by exercise, commencing around 16 years on average, followed by purging, starting at an average of 17 years,”¹ Prof Martin said.

“The use of tablets as a weight control behaviour typically commences in later teenage years, with laxative use starting at an average age of 18 years; diet pill use at an average age of 18 years; and the use of diuretics at an average age of 19 years.¹

“Most worryingly however, is the low number of Australian study participants who are under the care of a medical professional. Only 55 per cent of ANGI study participants with low Body Mass Indexes (BMI) who have a lifetime history of anorexia nervosa, see a medical practitioner, compared with an even lower 23 per cent of study participants with higher BMIs,”¹ said Prof Martin.

“Our interim results reveal the importance of awareness, detection and intervention with regard to weight control behaviours, especially given the young ages at which some of these behaviours emerge, and the potential for individuals to relapse and/or sustain long-term health effects.¹

“Our data also show that fasting and exercise generally commence at a younger age than other weight control methods, with 60 per cent of study participants reporting binge eating at some stage throughout their lives, beginning on average, around 18 years of age,”¹ Prof Martin said.

The ANGI study has been recruiting volunteers for almost three years to shed light on the genes that predispose people to anorexia nervosa, which researchers know, has a strong, but as of yet, unspecified genetic predisposition.⁴

A key feature of the ANGI study is that it includes people who are actively ill, people in remission, and people who have recovered, providing a broader picture and a wider sample from the general population, of eating disorder cases.

ANGI researchers are analysing DNA samples through a process known as ‘genome-wide association’, comparing the DNA of people who have never had an eating disorder, with those who currently have, or have had, anorexia nervosa.

Comparative analysis will not only serve to identify and discover genes that predispose people to eating disorders, but to also pinpoint genes responsible for other common mental health illnesses, such as depression, anxiety and alcoholism.⁴

Dr Sloane Madden, Co-director of The Eating Disorder Service, The Children’s Hospital at Westmead, Sydney says while the critical importance of this research is to identify genes implicated in the development of  anorexia nervosa, the interim results raise concerns of patient identification and access to care.

“The prevalence of eating disorders in Australia is known to be increasing.^5,6 The fact that a large number of people living with anorexia are not accessing medical care is concerning, given anorexia has the highest death rate of any mental health illness.⁷

“Low medical supervision rates will surely impact negatively on this perilous biological trap that patients and their families must fight hard to escape from,” said Dr Madden.

“We urge everyone in NSW who is living with, or has recovered from anorexia nervosa, to ensure they seek appropriate professional help in the first instance, and to join our very important scientific journey of discovery,” Prof Martin said. 

Dr Madden says encouraging people who have, or have had, anorexia nervosa to participate in the initiative, will help transform current knowledge of risk factors for anorexia nervosa.

“ANGI will enable us to work towards a greater understanding of, and ultimately a cure for, the illness. It will help healthcare professionals to identify those who may be vulnerable to the illness, and to manage their treatment accordingly.

“We know the causes of anorexia nervosa are varied and complex⁸ and include a combination of environmental, social and cultural factors.⁹ However, genetic predisposition is a known risk factor and should be a key area of focus,” said Dr Madden.

Anorexia nervosa is characterised by an obsessive desire to lose weight through restricting calorie intake and is associated with low body weight, difficulty maintaining a healthy body weight, fear of weight gain and extreme focus on weight and shape.⁴

The illness afflicts people from all age groups, socio-economic and cultural backgrounds.⁸ While anorexia nervosa typically starts, and is more common among adolescent girls,¹⁰ affecting four-in-every-100, the most serious forms of the illness occur in adults aged 25-to-45 years.¹¹

“Participating in ANGI is easy and free. Volunteers simply complete a 10-minute online, confidential survey and roll up their sleeves to provide a very small blood sample. It costs nothing apart from a little time, but could make a genuine contribution to solving this devastating illness,” Prof Martin said.

Volunteers can be male or female of any age (children require parental consent) who:

• Currently have anorexia nervosa; or
• Have had anorexia nervosa at some stage in their lives.

To learn more, or to register for the study:

• Visit qimr.edu.au
• Email angi@qimrberghofer.edu.au
• Freecall ANGI on 1800 257 179.

ANGI is being conducted in four centres worldwide including Australia, the United States, Denmark and Sweden. Australia plans to contribute more than a quarter of the total 13,000 DNA samples required for the initiative.

A total of 2,443 Australian volunteers have been recruited to date (April 27, 2016), with scientists aiming to attract a total of 3,000 blood donors by July, 2016, to complete Australia’s contribution to the ground-breaking study.

Mother-to-three, Jessica, 32, Sydney, always dreamed of becoming a professional ballerina. Tragically for Jessica however, she was born with scoliosis (abnormal curvature of the spine), which left her in agony following gruelling ballet sessions, during which she strove for perfection. At 14 years of age, Jessica quit school to pursue a professional ballet career. Two years later, in May 2000, her scoliosis had grown so severe, that she was forced to quit ballet forever and to undergo a complete spinal fusion, from which she spent the ensuing three months in hospital rehabilitating.

After reluctantly returning to school, which coincided with her parents’ divorce, Jessica “fell into an absolute state of flux and sadness” and began to severely restrict her food, in a bid to regain some semblance of control over her life. This led to a gruelling, six year battle with anorexia nervosa.

“A couple of years later, feeling incredibly overwhelmed by University, I chose to constantly starve myself to keep my weight down,” said Jessica, who explains anorexia nervosa as “a devastating illness that takes control of everything. You feel trapped, like you’re carrying a nasty little secret.”

Nowadays, having mounted a successful recovery from anorexia nervosa, Jessica is continuing to carve out a career in personal fitness training, and is focusing on maintaining good health.

“If participating in ANGI can make a genuine difference to the lives of those with anorexia nervosa, and to future generations predisposed to the illness, then I urge everyone with lived experience of anorexia nervosa, to volunteer for the study.”

ANGI blood donations will be used to extract DNA, which will be bio-banked for immediate and future genetic analysis under strict confidentiality and within Commonwealth privacy and National Health and Medical Research Council (NHMRC) guidelines. Blood donation involves attending a local pathology clinic armed with an ANGI blood collection kit sent by ANGI researchers. All blood sample kit delivery and collection costs will be covered by QIMR Berghofer Medical Research Institute.

For more information, or to register for ANGI, head to angi.qimr.edu.au.

QIMR Berghofer Medical Research Institute gratefully acknowledges support from the Klarman Family Foundation in funding this important research. For more information regarding the QIMR Berghofer Medical Research Institute, head to www.qimr.edu.au.

If you, or a loved one is currently living with anorexia nervosa, The Butterfly Foundation’s ED HOPE service offers support via phone (1800 33 4673), email (support@thebutterflyfoundation.org.au) or live chat (www.thebutterflyfoundation.org.au).

 

References

1. Martin F et al. Martin et al. The Anorexia Nervosa Genetics Initiative: Study description and sample characteristics of the Australian arm. April 2016.
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3. Australian Bureau of Statistics. 3101.0 – Australian Demographic Statistics, June 2012. http://www.abs.gov.au/AUSSTATS/abs@.nsf/allprimarymainfeatures/33970B13F1DF7F56CA257B3B00117AA2?opendocument [last accessed April 21, 2016].
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11. Anorexia Nervosa, Department of Health, Australia, health.gov.au/internet/publications/publishing.nsf/Content/mental-pubs-a-anorex-toc~mental-pubs-a-anorex-1 [last accessed April 21, 2016].