Lipodystrophy Awareness8 months ago
Posted on Apr 12, 2018, 12 a.m.
Lipodystrophy is a rare condition in which the ability to produce and store fat is impacted, that can be classed into two forms including inherited and acquired; and generalized and partial.
Total loss of subcutaneous fat is a result of generalized lipodystrophy. Partial lipodystrophy will result in loss of some fat in different areas of the body dependent on the cause of each case of lipodystrophy. Cause of acquired lipodystrophy has not been established yet, it is thought that it may be result of autoimmune response following trauma including infections. Inherited lipodystrophy is caused by what is thought to be presence of yet unknown mutations with estimated prevalence of one in a million worldwide. Lipodystrophy follows autosomal dominant inheritance pattern which is not gender specific giving offspring a 50/50 chance. Even with the high risk of genetic inheritance the condition has limited incidence within the general population as a whole, as it is defined as rare.
There is a fine balance between too much fat and not enough, when there is an issue with the balance in either direction metabolic complications will ensue. Leptin hormones are produced by fat cell adipocytes which regulate satiety and fat storage. Lipodystrophy restricts fat cell numbers leaving not enough able to produce leptin, leading to constant feelings of hunger even though they might feel physically full, the signal fails to reach the brain leaving psychological hunger, the more eaten increases calories making it harder to regulate diet in a healthy manner, leading to metabolic complications, which is why lipodystrophy imbalances are a concern.
It can be fairly easy to diagnose lipodystrophy, provided that clinicians know of the symptoms relevant to the condition. Being that it is a rare condition most within the medical community have never experienced the condition before and are unfamiliar with it, even in endocrine and diabetes clinics. Symptoms have a broad range which can be mistaken for diabetes poorly managed, making the importance to raise lipodystrophy awareness more relevant. Partial lipodystrophy can be more complicated as patients have little fat in extremities with excess visceral fat, to an untrained eye it resembles uncontrolled Type 2 diabetes, leaving patients misdiagnosed for years. Professional that are familiar with the lipodystrophy condition look for physical implications including muscular arms and legs; retention of visceral fat around torso, face, neck and back; and blood tests showing severe insulin resistance. Generalised lipodystrophy is the only form of the condition which is commonly picked up as it is a more extreme version of the condition because there is no subcutaneous fat at all, patients tend to be diagnosed early as complications are more severe.
Complications with this condition are similar to those typically associated with Type 2 diabetes which can include neuropathy, liver disease, retinopathy, kidney disease, and cardiovascular disease, among others. Conditions are often more severe in lipodystrophy patients, due to it making managing diet difficult. Major issues associated with lipodystrophy are heart disease and related complications; and fatty liver disease. Physiological impacts are also a concern as patients struggle with appearance, especially among women as it is less common to see a muscular woman they can develop body image issues.
Currently there are few studies surrounding lipodystrophy which are mostly academic and do not offer and benefits directly toward patient benefit. Lipodystrophy UK and other groups are trying to generate funding to support research projects which will benefit patients in the form of treatment options.
Knowledge is power, the more that is known, the more that can be done to support patients, helping to breed acceptance and empathy. This applies to all aspects of life, awareness particularly working with conditions when people need support so they can be part of society and not miss out on opportunities because of conditions they have no control over.
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