Breaking News
April 24, 2018 - Study sheds new light on how bilinguals process language
April 24, 2018 - Probiotics can improve liver health, shows study
April 24, 2018 - Study may explain how chemoresistance evolves over time in some triple-negative breast cancers
April 24, 2018 - Role of midbrain in encoding identity errors
April 23, 2018 - Salamander study provides clues for treating spinal cord injuries
April 23, 2018 - Relaxation after work could give better night’s sleep
April 23, 2018 - Loneliness on its way to becoming Britain’s most lethal condition
April 23, 2018 - Low-cost blood test for multiple myeloma can deliver same diagnostic information as bone biopsy
April 23, 2018 - Metabolic differences may contribute to postpartum weight retention in black moms
April 23, 2018 - Time-Related Deployment Factors Predict Suicide Attempt Risk
April 23, 2018 - Are newborns ugly? Research says newborns rated ‘less cute’ than older babies
April 23, 2018 - Prenatal marijuana use linked to increased chance of low birth weights
April 23, 2018 - Researchers identify target gene in P. aeruginosa infection
April 23, 2018 - New studies related to causes of liver degradation and possible treatments
April 23, 2018 - Studies offer leads for new approaches to treat neurological problems
April 23, 2018 - Gene Therapy May Be Cure for Some With Rare Blood Disorder
April 23, 2018 - Obesity impacts liver health in kids as young as eight years old
April 23, 2018 - Frequent cannabis use by young people linked to small reductions in cognitive function
April 23, 2018 - Innovative research could lead to new ways to treat, prevent cancer
April 23, 2018 - Study uncovers possible source of gender differences in migraines
April 23, 2018 - Study proves usefulness of EDX testing in diagnosis, management of neuromuscular disorders
April 23, 2018 - Hacking ‘drug trafficking’ system could increase effectiveness of diabetes treatment
April 23, 2018 - Clinical trial to examine stem cell therapy for treatment, prevention of complications after traumatic injury
April 23, 2018 - Targeted radiotherapy found to be a good option for women with early breast cancer
April 23, 2018 - Eating fish could prevent Parkinson’s disease
April 23, 2018 - Philips showcases dedicated radiation oncology solutions at ESTRO 2018
April 23, 2018 - Key factor in development of Parkinson’s disease identified
April 23, 2018 - Higher consumption of fish linked to better neurological health
April 23, 2018 - Genevac announces HT Series 3 evaporators with Inert Gas Purge option
April 23, 2018 - Researchers clarify immune response for patients with breast cancer brain metastases
April 23, 2018 - Polypharmacy More Likely for Cancer Survivors
April 23, 2018 - Obesity is shifting cancer to young adults
April 23, 2018 - Scientists illustrate role of novel chromosomal mutations in fosfomycin resistance
April 23, 2018 - Newly developed drug compound may help treat Charcot-Marie-Tooth disease
April 23, 2018 - Marriage Means ‘I Do’ for Skin Cancer Detection
April 23, 2018 - Freezing hunger-signaling nerve may help ignite weight loss
April 23, 2018 - Wear exoskeletons with caution for heavy lifting, researchers say
April 23, 2018 - Research offers new hope for healing wounds in patients with diabetes
April 23, 2018 - Shorter courses of radiotherapy found to be safe, effective for prostate cancer patients
April 23, 2018 - Scientists use CRISPR tool to make multiple edits to DNA samples ‘in vitro’
April 23, 2018 - Knee reconstructions are on the rise among the youth in Australia
April 23, 2018 - Artificial sweeteners linked to obesity warn researchers
April 23, 2018 - CDC seeking $400 million to replace lab for deadliest germs
April 23, 2018 - Sensirion to present single-use liquid flow sensor at COMPAMED 2017
April 23, 2018 - FDA approves contact lenses that shade the sun
April 22, 2018 - Concussion recovery and symptom severity found to vary between men and women
April 22, 2018 - C. Difficile Risk Higher With Stoma Reversal Versus Colectomy
April 22, 2018 - Repeated ranibizumab doesn’t impair macular perfusion
April 22, 2018 - New microscope reveals how cells behave in 3D and real time inside living organisms
April 22, 2018 - Study shows clinical benefit and monetary gains of weight-loss surgery
April 22, 2018 - GNA Biosolutions launches world’s first Laser PCR platform at Medica Trade Fair
April 22, 2018 - Researchers present simulation model to investigate hospital responsiveness to mass casualty incidents
April 22, 2018 - Does Pot Really Dull a Teen’s Brain?
April 22, 2018 - Controversial pregnancy test drug shows deformities in zebrafish embryos within hours of exposure
April 22, 2018 - New research partnership makes childbirth safer in Mozambique
April 22, 2018 - Brief bedside visual art intervention reduces pain, anxiety in cancer patients
April 22, 2018 - The memory part of the brain may also hold clues for anxiety and depression
April 22, 2018 - AYOXXA to develop multiplex immunoassay to support treatment of sepsis patients
April 22, 2018 - New Drug Combo Ups Survival in HER2/neu Uterine Serous Cancer
April 22, 2018 - Researchers chart a new way to look at concussion
April 22, 2018 - Every parent needs to know fundamental red flags for autism
April 22, 2018 - Anatotemp expands anatomic dental implant healing abutments with 4Side anti-rotational connection
April 22, 2018 - Gene Twist Can Make Your Blood Pressure Spike From Salt
April 22, 2018 - Study suggests failed osteoarthritis drug could help treat opioid addiction
April 22, 2018 - More Americans aware of growing problem of opioid addiction
April 22, 2018 - KHN’s ‘What the Health?’ Nothing in health care ever goes away
April 22, 2018 - BGS to promote high-quality sterilization services at Health GB in Manchester
April 22, 2018 - New integrated POC tool detects biomarkers of heart failure rapidly and precisely
April 22, 2018 - Direct electrical current can be delivered to nerves for blocking pain signals
April 22, 2018 - Newly Published Phase 2 Study Found Esketamine Demonstrated Significantly Rapid Improvements in Depressive Symptoms and Suicidality
April 22, 2018 - Healthy red blood cells owe their shape to muscle-like structures
April 22, 2018 - Researchers present case study of management of rheumatic mitral regurgitation in woman contemplating pregnancy
April 22, 2018 - New black Porvair Krystal UV Quartz microplates for Circular Dichroism measurements
April 22, 2018 - Advanced flow chemistry modules enhance control of nanoprecipitation
April 22, 2018 - Look! Down in the petri dish! It’s a superplatelet!
April 22, 2018 - Research reveals why people with tetraplegia more likely to suffer from sleep apnea
April 21, 2018 - New non-invasive nerve stimulation may offer relief for people with hand tremor
April 21, 2018 - Smartphone App May Up Medication Adherence in HTN
April 21, 2018 - Western diet depletes artery-protecting immune cells
April 21, 2018 - Excelitas Technologies launches new powerful LED light source for fluorescence microscopy
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