Breaking News
November 14, 2018 - Health Tip: Limit Fat, Sugar and Salt in Your Child’s Diet
November 14, 2018 - CA 19-9 Blood Test (Pancreatic Cancer): MedlinePlus Lab Test Information
November 14, 2018 - Old drug could have new use helping sick premature babies
November 14, 2018 - Surgery, not antibiotics, should remain first-line treatment for appendicitis | News Center
November 14, 2018 - Researchers to develop sports-specific classification system for blind football
November 14, 2018 - Preschool children show awake responses to naptime nonsense words
November 14, 2018 - Survey shows negative effect of vulvovaginal atrophy symptoms on quality of life for women
November 14, 2018 - Study sheds light on mechanisms that prevent autoimmune attack
November 14, 2018 - Sleep quality found to be worse for women who undergo surgical menopause
November 14, 2018 - New study provides deeper insight into chromosome segregation during mitosis
November 14, 2018 - Inhibition of one protein clears toxic clumps seen in Parkinson’s disease, study finds
November 14, 2018 - Appendix removal is linked to lower risk of Parkinson’s
November 14, 2018 - Lifting weights for less than an hour a week may reduce cardiovascular disease risk
November 14, 2018 - Pulmonary rehabilitation rarely received by hospitalized COPD patients despite health benefits
November 14, 2018 - New anti-HER2 drug shows promising anti-tumor activity in gullet, stomach and bowel cancers
November 14, 2018 - Regular head circumference assessment of preterm babies can help identify long-term IQ problems
November 14, 2018 - Brigham investigators examine opioid use among Massachusetts adolescents, prescription trends
November 14, 2018 - Study defines biomarker in response to treatment of castration-resistant prostate cancer
November 14, 2018 - Study identifies potential therapeutic strategy for patients with clear cell renal cancer
November 14, 2018 - Bausch Health Announces U.S. Launch of Bryhali (halobetasol propionate) Lotion, 0.01%, for Plaque Psoriasis In Adults
November 14, 2018 - Alpha Fetoprotein (AFP) Tumor Marker Test: MedlinePlus Lab Test Information
November 14, 2018 - Researchers evaluate controversial treatment for Parkinson’s disease psychosis
November 14, 2018 - AI could help veterinarians code their notes
November 14, 2018 - Pre-schoolers with autism thrive in mainstream classroom settings
November 14, 2018 - Individual and work-related factors may help promote hospital physician engagement, finds study
November 14, 2018 - Complementary and alternative medicine is widely used by general population in England
November 14, 2018 - Study reveals link between tobacco availability and smoking during pregnancy
November 14, 2018 - Purdue researchers develop translucent base for silicon patches to deliver exact doses of biomolecules
November 14, 2018 - New technology based on moths and magnets could help treat genetic diseases
November 14, 2018 - Concussion-Related Biomarkers Vary Based on Sex, Race
November 14, 2018 - One more year of high school may shape waistlines later in life
November 14, 2018 - Dissecting high drug costs – Scope
November 14, 2018 - Study shows novel strategy to reduce breast cancer bone metastasis
November 14, 2018 - Empowering the NHS through Industry Partnerships
November 14, 2018 - One size does not fit all in obesity treatment, study finds
November 14, 2018 - Seeking ways to prevent ‘secondary cataracts’
November 14, 2018 - Change Within the Eye May Be Early Warning for Macular Degeneration
November 14, 2018 - Study of 500,000 people clarifies the risks of obesity
November 14, 2018 - Ultrasound releases drug to alter activity in targeted brain areas in rats | News Center
November 14, 2018 - Umass Amherst researchers battle against youth suicide in rural Alaska Native communities
November 14, 2018 - Cancer stem cells depend on amino acid metabolism, and it’s proving to be their Achilles’ heel
November 14, 2018 - Epigenetic link found between prenatal exposure to maternal smoking and offspring’s cardio-metabolic health
November 14, 2018 - Meditation, music may change biomarkers of cellular aging and Alzheimer’s disease in older adults
November 14, 2018 - Multidisciplinaryresearch teams selected to study age-related brain disorders
November 14, 2018 - The Current issue of “The view from here” is concerned with Informatics
November 14, 2018 - Researchers identify tool to help transgender women have a more authentic voice
November 14, 2018 - Four faculty members appointed to endowed professorships | News Center
November 13, 2018 - Research finds strongest evidence yet that obesity causes depression
November 13, 2018 - Researchers compare stools of breastfed and formula-fed infants
November 13, 2018 - Entasis Therapeutics Announces Zoliflodacin Phase 2 Results Published in The New England Journal of Medicine
November 13, 2018 - Gene changes driving myopia reveal new focus for drug development
November 13, 2018 - $6 million grant to support study of preeclampsia, atherosclerosis links | News Center
November 13, 2018 - Beneficial gut microbes metabolize high-fiber diet to improve heart health in mouse model
November 13, 2018 - Excessive use of social media through visual postings linked to increase in narcissistic traits
November 13, 2018 - Study finds why obesity both fuels cancer growth and helps immunotherapy to kill tumors
November 13, 2018 - Women prefer and invest more in daughters, while men favor sons
November 13, 2018 - With hospitalization losing favor, judges order outpatient mental health treatment
November 13, 2018 - Transgenic rat model may provide new insights into cerebral amyloid angiopathy
November 13, 2018 - Study identifies factors tied to greater risk of advanced liver disease in cystic fibrosis patients
November 13, 2018 - Risk of blindness among premature babies with low levels of blood platelets
November 13, 2018 - A new strategy for combatting antibiotic-resistant infections
November 13, 2018 - Study aims to find which outreach method is more effective at improving cancer screening rates
November 13, 2018 - Insufficient sleep duration linked with unhealthy lifestyle profile among children
November 13, 2018 - IIASA researchers introduce new, simple measure for human wellbeing
November 13, 2018 - Magnetic nanosprings used as targeted drug delivery agents for anticancer therapy
November 13, 2018 - Scientists examine FCMs containing silver nanoparticles
November 13, 2018 - Failed DNA repair triggers chromosomal chaos
November 13, 2018 - Study shows new emerging role of osteopontin in HCV-related hepatocellular carcinoma
November 13, 2018 - Food insecurity during pregnancy linked to severity of neonatal abstinence syndrome
November 13, 2018 - Majority of Americans are concerned about health threat posed by antibiotic resistance
November 13, 2018 - Addition of Elotuzumab Ups PFS in Refractory Multiple Myeloma
November 13, 2018 - Study finds women with pregnancy-related nausea, vomiting use marijuana more
November 13, 2018 - Lethal heart rhythm more likely to be found in patients with common heart failure
November 13, 2018 - Study provides new clues to origin and development of multiple sclerosis
November 13, 2018 - Climate change could pose threat to male fertility
November 13, 2018 - Researchers discover how mitochondria deploy a powerful punch against disease-causing bacteria
November 13, 2018 - AHA: Traumatic Childhood Could Increase Heart Disease Risk in Adulthood
November 13, 2018 - Feeling the Burn? | NIH News in Health
November 13, 2018 - Women’s birth canals in Kenya, Korea, Kansas not the same: study
November 13, 2018 - Fecal microbiota transplantation effective against ICI-associated colitis
Lipodystrophy: The Importance of Awareness

Lipodystrophy: The Importance of Awareness

image_pdfDownload PDFimage_print

An interview with Rebecca Sanders on behalf of World Lipodystrophy Day on 31st March 2018, conducted by Alina Shrourou, BSc

Lipodystrophy is a condition that impacts a person’s ability to produce and store fat. It can be categorised into different forms, including acquired and inherited, and partial and generalized. Generalized lipodystrophy results in a total of loss of subcutaneous body fat, and partial results in a loss of some fat in different areas of the body depending on the cause of that particular case of lipodystrophy.

The cause of acquired forms of lipodystrophy has not yet been established, but currently the consensus is that it may be an autoimmune response following trauma, such as a viral infection. As for the inherited forms, the presence of an unknown mutation, with an estimated prevalence of approximately one in a million people worldwide, is thought to be the cause.  Lipodystrophy often follows an autosomal dominant inheritance pattern that is not sex-linked, meaning offspring have a fifty per cent chance of inheriting the condition. Despite the high chance of passing it on genetically, the condition’s limited incidence within the population as a whole, means it is defined as ultra-rare.

For a long time, the role of fat as an organ in the body of obese patients and patients with lipodystrophy was not well understood. However, body fat’s important metabolic role has recently become much clearer, alongside the fact that excess fat has similar detrimental metabolic complications as too little fat.

Critically, there is a very fine balance between too much fat, and too little, and this must be regulated constantly. When an issue with this balance exists, in either direction, metabolic complications ensue.

Leptin is a hormone produced by adipocytes (fat cells) that regulates satiety and fat storage. In a condition, such as lipodystrophy, where there are not enough fat cells, patients are not able to produce enough leptin.

© Kateryna Kon/Shutterstock.com

No matter how much people with lipodystrophy or other conditions that cause hypoleptinemia eat, they can experience feelings of constant hunger. They might feel full physically, but they are ‘psychologically hungry’ as the signal fails to reach the brain. This is an issue because the more you eat, the more difficult it is then to therefore regulate diet and eat healthily. In addition, the amount of calories that are consumed increases if you are eating large amounts of food. The metabolic complications and imbalances of lipodystrophy are a huge concern for healthcare professionals and patients.  

Lipodystrophy is easy to diagnose if clinicians know which symptoms are relevant for the condition. The problem is, many doctors and consultants within the medical community have not experienced a case of lipodystrophy before, even in diabetes clinics and endocrine clinics, so they are unfamiliar with the condition. In addition, patients present a broad range of symptoms that are often mistaken for poorly managed diabetes. This is why it is important to raise awareness of lipodystrophy in the medical community, particularly for diabetes clinics and endocrinology clinics, but also amongst general practitioners.

The diagnosis is even more complicated for patients with partial lipodystrophy. These patients have very little fat in their extremities, but may have a lot of visceral fat (fat that is packed in around the organs). To the untrained eye, this could look like a case of uncontrolled Type 2 diabetes. Patients can go undiagnosed for years, often being diagnosed in their twenties, thirties, even forties, with many misdiagnoses along the way.

For medical professionals familiar with lipodystrophy-associated conditions and actively look for it in patients, the physical implications including muscular legs and arms, sometimes a retention of visceral fat around the torso area, face, and on the neck and back, can be quite obvious. Medical professionals can see the physical signs and blood tests may show very severe insulin resistance, for example. It then becomes a much more obvious picture.

The only form of the condition which is more commonly picked up is generalised lipodystrophy, because it’s a much more extreme version of the condition, where there’s no subcutaneous fat whatsoever. These patients tend to be diagnosed earlier on in life because the complications are much more severe.

A lot of the complications seen with conditions like lipodystrophy are those normally associated with Type 2 diabetes. These can include cardiovascular disease, liver disease, kidney disease, neuropathy, retinopathy, etc. Often these conditions are much more severe in lipodystrophy patients and occur rapidly as the metabolic problems are more severe in these patients than those with diabetes.  

Hypoleptimia is one of the resulting symptoms that the effects are more severe in lipodystrophy patients, as it affects the ability to manage diet effectively. A couple of the big problems within the community are heart disease and related complications, and also fatty liver disease, known as non-alcoholic hepatic steatosis.

The physiological impact of lipodystrophy is also a concern for clinicians. Patients often struggle with their appearance, particularly women, because of the muscular appearance commonly experienced in some forms of lipodystrophy. Typically, if you see an extremely muscular man, it is not unusual, whereas it is less common to see those same features in a woman within our society, so many patients experience body image issues.

I received my lipodystrophy diagnosis when I was 17, and the first thing I asked was if there is a support group that we can join and meet other people. Unfortunately, there wasn’t anything available, and that really set me on the path! I wrote a letter, which I gave to the lead commissioner in the UK, and asked if he would be willing to pass it on to other patients, so that if they wanted to they could contact me. I met several people who contacted me on the basis of that letter, that’s where it all started.

I later started a website which included patient support teams that worked in collaboration with other groups. Patients could then speak to medics, dieticians, nurses, and consultants about aspects of their condition. This was important because in a 10-minute, or 15-minute consultation, there’s always questions you forget to ask or don’t have time to bring up. We started hosting days where people could ask all those questions and it really helped us as patients to get to know each other and share experiences. Having that sense of community really helped and it’s all grown from that.

Awareness campaigns are really important for the medical community, but also for the community at large. In the medical community, raising awareness helps people to get diagnosed much quicker. For lots of rare diseases, the average wait to get the correct diagnosis is about seven years, so anything that can decrease that time is worthwhile.  

Boosting awareness also means that, where treatments are available, patients can be treated quicker. While there’s no specific treatment or very little specifically for lipodystrophy, you can treat the complications such as diabetes. If you’re being treated properly, you’ll have a better long-term outcome.

Also, it is important that patients are able to recognise the symptoms of lipodystrophy so that they can attend support groups to help with the psychological side effects. Patients often feel under pressure because people don’t believe them. It’s not nice to label, but also at the same time, it was a relief at the time of my diagnosis because we could put a name to it and we began to think, maybe we can do something now, maybe we can find answers. It’s the not knowing that is really difficult for people.

It is not just the medical profession that need to be aware of the psychological impact, but also, society at large. Currently, there are many expectations in society in terms of the way people should look. It’s important that we address this and teach children that people who look different should still be considered normal and should be accepted in the same way and respected.

This doesn’t just go for people with lipodystrophy; it goes for people with disabilities of all descriptions. It is for anybody who doesn’t fit within the normal sphere. People need to gain an understanding of differences and accept them, and in fact, embrace them, so that our lives are not made more difficult because of ignorance. This is where raising awareness for certain conditions can help!

Knowledge is power – the more patients know about a condition, the more they can do to support themselves, as well as making sure they get the right help medically.

In addition, the more awareness we are able to generate within the field creates interest and inspires research, potentially leading to treatment options that are not currently available.

Also, in a sense of life in general, raising awareness of anything is a good thing because it breeds acceptance. It allows people to not be ashamed about either the way they look or the kind of medication regime that they have to deal with, and allows them to be themselves. This applies to all aspects of life, especially working situations where provisions may be needed so that people can be a part of society and not miss out on certain opportunities because of a condition that they have no control over.

Awareness is one of the major things that we will be focusing on over the next couple of years. We’ve been really keen to get involved in raising money and funding research, such as funding PhD scholarships for researching aspects of the condition that would benefit the community.

Awareness is one of the major things that we will be focusing on over the next couple of years. We’ve been really keen to get involved in raising money and funding research, such as funding PhD scholarships for researching aspects of the condition that would benefit the community.

Although there are scientific studies surrounding lipodystrophy currently, these are mainly academic and so do not directly benefit patients. If we can fund research projects to benefit patients in the form of treatment options, for example, that would be fantastic.

We’re also trying to collaborate with other lipodystrophy groups worldwide, throughout both Europe and America. Again, this helps in terms of awareness and increases the size of patient support groups. We are hoping that people will share their experiences and build a stronger network, whether it’s qualified medical professionals, or things that have worked for the community, or just families that support each other in local areas.

Another aim of ours is to organize a worldwide conference where we can get patient support groups and charities, and also medical professionals from across the globe to come together and talk about their experiences and share their knowledge of the condition.

Join our community and follow us on twitter to keep up to date with the work we are doing at Lipodystrophy UK: https://twitter.com/lipodystrophyuk

About Rebecca Sanders

Rebecca Sanders is the Co-founder and Chair of Lipodystrophy UK, the only UK charity set up to support people affected by lipodystrophy and raise awareness of the condition. Following diagnosis, Rebecca was motivated to fully understand her own condition and undertook a Masters degree, looking at aspects of fat metabolism, to discover more about lipodystrophy. Currently Rebecca is based in Oxford, working in biological scientific research.

As Chair of Lipodystrophy UK, Rebecca is driven to raise awareness of lipodystrophy, not only with the general public, but also amongst the clinical community, to ensure that as many people as possible understand what lipodystrophy is and the effects it can have on those living with it.  

Tagged with:

About author

Related Articles