Familial Partial Lipodystrophy

FPL rare group of genetic lipodystrophies

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Rare Genetic Lipodystrophies

Familial Partial Lipodystrophy FPL

Familial Partial Lipodystrophy (FPL) is a rare group of genetic lipodystrophies that causes fat loss from the limbs and buttocks, from childhood or early adulthood.

There are 6 different forms of familial partial lipodystrophy, FPDL1 through to 6. The first 3 forms are the most common of these rare conditions.

Familial Partial Lipodystrophy Symptoms​
Familial Partial Lipodystrophy Symptoms​

Familial Partial Lipodystrophy Symptoms

Symptoms of FPL include visible fat loss and gain in certain parts of the body, as well as abdominal pain and high blood pressure.

Left untreated LPL can lead to other serious medical problems such as diabetes, insulin resistance, premature atherosclerosis, acute pancreatic, liver disease and an increased risk of coronary heart disease. 

The most common symptom of FPL is abnormal fat distribution and visible fat loss of specific parts of the body; areas determined by the type of FPL affecting the patient.

FPDL2, the most common form of the disease, causes fat loss in the arms, legs, trunk and buttocks, together with abnormal fat deposition around the face, neck and upper back. FPDL1, only produces fat loss the arms and legs, as well as minor increases in fat deposition on the neck and face. And FPLD3, one of the rarest forms of FDL thought to affect just 20-30 patients worldwide, has just one main symptom in which a total absence of facial fat occurs.

In addition to symptoms caused by abnormal fat distribution, other symptoms of FPL include abdominal pain and discomfort, high blood pressure, and blotchy skin around the affect areas.

FPDL1 and FPDL2 are associated with insulin resistance, diabetes, increased triglycerides fats in the blood (hypertriglyceridemia), increase fat build up in the liver (liver steatosis), fatty liver disease (hepatic steatosis), inflammation of the pancreas, and dark patches of skin on the neck, armpits and buttocks (acanthosis nigricans). FPDL3 however is more often associated with severe hypertension (high blood pressure).

Familial Partial Lipodystrophy


Familial Partial Lipodystrophy Diagnosis

Diagnosis of Familial Partial Lipodystrophy (FPL) is made by physical examination, identifying characteristic symptoms and analyzing patient history. In some cases laboratory tests including skinfold measurements, MRI, and dual-energy X-ray absorptiometry may be utilized to assist diagnosis.

Familial Partial Lipodystrophy Treatments

In order to manage symptoms of FPL, the coordinated efforts of several medical specialists may be called upon. These include cardiologists, endocrinologists, nutritionists, pediatricians, and plastic surgeons. Furthermore, due to the anxiety, stress, and extreme psychological distress the diagnosis may cause, patients are often advised to seek counselling as well.

Although there is a lack of clinical trials surrounding FPL, the medical community’s general consensus on how best to treatment the condition focuses on maintaining a healthy, low-fat diet together with an active lifestyle and sufficient exercise.

Low Fat Diet

Patients will be advised to limit their intake of trans-unsaturated and saturated fats, as well as dietary cholesterol. However, with little solid research it is still unknown exactly how effective these measures will be long term.

Regular Exercise

Performing regular exercise and limiting energy intake can also help patients reduce the formation of fatty deposits around the neck and face.

Manage Diabetes

Diabetes that develops as a result of FPL can be treated with standard therapies, and those suffering with hypertriglyceridemia may be treated with statins, fibric acid derivatives, or n-3 polyunsaturated fatty acids.

Preventative Measures

Unfortunately, the characteristic loss of adipose tissue caused by FPL cannot be reversed. Therefore preventative measures still remain a patients’ best course of action, highlighting the importance of an accurate and timely diagnosis.

Have questions?

Familial Partial Lipodystrophy Frequently Asked Questions

Of the 6 main forms of FPL, all are extremely rare. The form diagnosed most often, FPLD2, is reported to affect just 500 people worldwide, whilst the other 5 groups combined are thought to affect fewer than 3 dozen people globally.

FPL is hereditary and therefore cannot be prevented. It is autosomal dominant and develops at a rate of 50% if one parent has the mutate gene.

Since the very nature of the disease is rare, it’s likely that local support options will be limited, thus the online medical community can become a valuable resource.


The GARD, Genetic and Rare Diseases Information Center, for example, is one resource that provides information on patient organizations designed to help patients and families connect. However, there are many more that also offer credible information as well as forums where those living with FPL can connect and share their stories, tips, and advice. 

Talk to your doctor about finding suitable support groups, both in person and online, for those suffering with FPL.

Clinical trials are the final step in the extensive procedure required to develop safe and effective treatments. Follow the latest trials to keep up-to-date with new information regarding FPL treatments and medications, as well as advancements that may improve efficiency of treatment for FPL.

Government Clinical Trials >>>


Those looking for the latest information and discoveries regarding FPL can search credible online medical resources, such as:

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