Breaking News
February 18, 2019 - New dental adhesive prevents tooth decay around orthodontic brackets
February 18, 2019 - New eHealth tool shows potential to improve quality of asthma care
February 18, 2019 - New Australian initiative helps emergency clinicians to improve patient care
February 17, 2019 - Apellis Pharmaceuticals’ APL-2 Receives Fast Track Designation from the FDA for the Treatment of Patients with Paroxysmal Nocturnal Hemoglobinuria
February 17, 2019 - Researchers identify faulty ‘brake’ that interferes with heart muscle’s ability to contract and relax
February 17, 2019 - Support from trusted adults can reduce risk of dying in suicidal teens, finds study
February 17, 2019 - Heart attack awareness improved since 2008
February 17, 2019 - Exercise gives a better brain boost to older men than women
February 17, 2019 - New research disproves previous assumptions of how looks influence personality
February 17, 2019 - Cannabis use as a teenager linked to depression later in life
February 17, 2019 - Sinks by Toilets in ICU Patient Rooms Harbor Harmful Bacteria
February 17, 2019 - Cancer cells’ plasticity makes them harder to stop
February 17, 2019 - Young cannabis users have increased risk of depression and suicidal behavior
February 17, 2019 - Tasmanian Devils Likely to Survive Cancer Scourge
February 17, 2019 - Neoadjuvant PD-1 blockade seems effective in glioblastoma
February 17, 2019 - Personal, social factors play role in enabling sustainable return to work after ill health
February 17, 2019 - Mouse studies show ‘inhibition’ theory of autism wrong
February 17, 2019 - Study shows how neuroactive steroids inhibit activity of pro-inflammatory proteins
February 17, 2019 - Use of liver grafts from older donors decreased despite better outcomes in recipients
February 17, 2019 - MUSC researchers discover new mechanism for a class of anti-cancer drugs
February 17, 2019 - HPV misconceptions are causing women to miss smear tests
February 17, 2019 - Sanofi and Regeneron Offer Praluent (alirocumab) at a New Reduced U.S. List Price
February 17, 2019 - Researchers say auditory testing can identify children for autism screening
February 17, 2019 - New method analyzes how single biological cells react to stressful situations
February 17, 2019 - WVU gynecologic oncologist investigates novel treatment for cervical and vaginal cancers
February 17, 2019 - ADHD diagnoses poorly documented
February 17, 2019 - Majority of gender minority youth do not identify with traditional sexual identity labels
February 17, 2019 - AbbVie, Teneobio enter into strategic transaction to develop potential treatment for multiple myeloma
February 17, 2019 - Lower Birth Weight May Up Risk for Psychiatric Disorders
February 17, 2019 - Scientists identify reversible molecular defect underlying rheumatoid arthritis
February 17, 2019 - Moffitt researchers shed light on how CAR T cells function mechanistically
February 16, 2019 - Female Anatomy May Play Big Role in Sperm’s Success
February 16, 2019 - BMI may mediate inverse link between fiber intake, knee OA
February 16, 2019 - Movement impairments in autism can be reversed through behavioral training
February 16, 2019 - Studies address racial disparities in postpartum period and cardiovascular health
February 16, 2019 - Scientists implicate hidden genes in the severity of autism symptoms
February 16, 2019 - Decreased deep sleep linked to early signs of Alzheimer’s disease
February 16, 2019 - Neuroscientists show how the brain responds to texture
February 16, 2019 - Gilead Announces Topline Data From Phase 3 STELLAR-4 Study of Selonsertib in Compensated Cirrhosis (F4) Due to Nonalcoholic Steatohepatitis (NASH)
February 16, 2019 - What Can I Do About Sweating? (for Teens)
February 16, 2019 - Companies navigate dementia conversations with older workers
February 16, 2019 - Newly developed stem cell technologies show promise for treating PD patients
February 16, 2019 - Collaborative material research could advance self-assembling nanomaterials
February 16, 2019 - Researchers take major step in creating technology that mimics the human brain
February 16, 2019 - Erasing memories associated with cocaine use reduces drug seeking behavior
February 16, 2019 - Artificial intelligence can accurately predict prognosis of ovarian cancer patients
February 16, 2019 - Racial disparities in cancer deaths on the decline for America
February 16, 2019 - FDA authorizes new interoperable insulin pump for children, adults with diabetes
February 16, 2019 - Coexisting Medical Conditions, Smoking Explain PTSD-CVD Link
February 16, 2019 - Skin Cancer Screening: MedlinePlus Lab Test Information
February 16, 2019 - ‘Happiness’ exercises can boost mood in those recovering from substance use disorder
February 16, 2019 - Cell manipulation could soon halt or reverse aging
February 16, 2019 - Pumped Breast Milk Falls Short of Breastfed Version
February 16, 2019 - Men’s porn habits could fuel partners’ eating disorders, study suggests
February 16, 2019 - Rapid progression of age-related diseases may result from formation of vicious cycles
February 16, 2019 - Immune checkpoint molecule protects against future development of cancer
February 16, 2019 - New method produces hydrogels that have properties similar to cells’ environment
February 16, 2019 - $4.1 million funding for heart research on Valentine’s Day
February 16, 2019 - General anesthesia in early infancy unlikely to have lasting effects on developing brains
February 16, 2019 - New breakthroughs for muscular dystrophy research
February 16, 2019 - First Opinion: Embryo editing for higher IQ is a fantasy. Embryo profiling for it is almost here
February 16, 2019 - Vapers develop cancer-related gene deregulation as cigarette smokers
February 16, 2019 - Bringing Antimicrobial Susceptibility Testing (AST) to the Community
February 16, 2019 - Decolonization protocol after hospital discharge can prevent dangerous infections
February 16, 2019 - Children with ASD more likely to face maltreatment, study finds
February 16, 2019 - Study finds genetic vulnerability to use of menthol cigarettes
February 16, 2019 - Promising drug developed to rejuvenate muscle cells
February 16, 2019 - H-RT should be the standard of care for men with low risk prostate cancer, study shows
February 16, 2019 - New technique using patients’ own modified cells could help treat Crohn’s disease
February 16, 2019 - Therapeutic endoscopy has an expanding role in the treatment of IBD
February 16, 2019 - Blood clot discovery could lead to development of better treatments for blood diseases
February 16, 2019 - Intervention can increase exclusive breastfeeding rates
February 16, 2019 - New project explores how gaming technologies can help cancer patients communicate better
February 16, 2019 - Catalyst Biosciences Presents Updated Data from Its Phase 2/3 Trial of Subcutaneous Marzeptacog Alfa (Activated) in Individuals with Hemophilia A or B with Inhibitors at the 12th Annual EAHAD Congress
February 16, 2019 - Rerouting nerves during amputation reduces phantom limb pain before it starts
February 16, 2019 - A Hormone Produced When We Exercise Might Help Fight Alzheimer’s
February 16, 2019 - Millions of British people breathe toxic air travelling to GPs
February 16, 2019 - Conformance of genetic characteristics found to be crucial for longer preservation of kidney graft
February 16, 2019 - Researchers use optogenetic tool to control, visualize receptor signals in neural cells
February 16, 2019 - New reversible antiplatelet therapy could reduce risk of blood clots, prevent cancer metastasis
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