Lipodystrophy is a rare group of diseases characterised by the selective loss of fat in certain parts of the body. There are several types of lipodystrophy: congenital generalised lipodystrophy (CGL), familial partial lipodystrophy (FPL), acquired generalised lipodystrophy (AGL), acquired partial lipodystrophy (APL), localised lipodystrophy, and HIV-associated lipodystrophy.
Lipodystrophy can be either genetic (inherited) or acquired (where one develops the disease later in life).
CGL and FPL are caused by genetic abnormalities. In both CGL and FPL, there are multiple genes that are responsible for the disease. CGL is autosomal recessive, which means that both parents need to carry the genetic abnormality for their child to have the disease. FPL is autosomal dominant, which means that only one parent needs to have the abnormal gene for their child to have a 50% chance of inheriting the disease.
The exact cause behind AGL is unknown. In some cases of AGL, people initially develop painful lumps from inflamed fat, which subsequently leads to generalised fat loss. In other instances, AGL seems to have an autoimmune cause (where one’s immune system attacks the body).
The exact cause of APL is unknown. However, APL has a strong association with autoimmune diseases such as lupus and juvenile dermatomyositis.
HIV associated lipodystrophy is caused by protease inhibitors which are used in the treatment of HIV. These protease inhibitors interfere with processes in the body that allow fat cells to mature and develop.
There are many different causes of localised lipodystrophy. Some of these causes include injections of drugs such as insulin or corticosteroids, pressure, or inflamed subcutaneous fat.
People affected by CGL are very muscular from birth, with very little body fat. You may also notice dark patches in the body folds of the skin, a prominent umbilicus, and prominent veins. People with CGL also tend to have coarse and large facial features (acromegaloid).
In FPL, the disease starts to show itself around puberty. Fat loss affects the limbs and trunks, and fat tends to accumulate in the face and neck, as well as internally around the organs.
AGL tends to occur in childhood or adolescence. Fat loss tends to affect the whole body.
APL tends to appear before the age of 15. Fat loss in APL spreads downwards, progressively affecting the face, then the neck, trunk and arms.
HIV associated lipodystrophy is characterised by loss of fat from the face, trunk and limbs. Fat is instead deposited on the back between the shoulders, chin, and internally, around the organs.
Localised lipodystrophy is characterised by fat loss in small areas, which can leave a dent in the affected area.
People with CGL are prone to intellectual impairment, heart muscle weakness, diabetes and hyperlipidaemia (high levels of fat in the bloods). Females with CGL also tend to have problems with fertility.
FPL is associated with diabetes, hyperlipidaemia, and cardiovascular disease.
In AGL, the generalised fat loss can lead to many metabolic abnormalities such as diabetes, hyperlipidaemia, menstrual abnormalities in women, and fatty liver.
1 in 5 people with APL have an autoimmune kidney problem called membranoproliferative glomerulonephritis. However, unlike AGL, metabolic problems are uncommon.
HIV associated lipodystrophy is associated with diabetes mellitus, hyperlipidaemia, and cardiovascular disease.
Hyperlipidaemia is often associated with acute pancreatitis and can therefore occur in many lipodystrophies. There are no known problems that occur from localised lipodystrophy.
Your doctor will need to take a detailed history and perform an examination of your skin to diagnose lipodystrophy. In addition to this, your doctor may require blood tests to look for autoimmune or genetic causes of your lipodystrophy, and to screen you for other medical problems that often accompany lipodystrophy
There is no cure for lipodystrophy. The main goals of treatment are to manage the complications of the disease, and to address any cosmetic problems.
Cardiovascular disease and hyperlipidaemia
People with lipodystrophy need to adhere to a very low-fat diet and to avoid alcohol, particularly if you have fatty liver. It is advisable to have the input of a dietitian. Regular exercise is also highly recommended.
Your doctor may prescribe diabetic medications such as metformin or insulin if you have high blood sugar levels. It is also important to restrict your sugar intake.
Changes in your physical appearance can result in emotional distress. Cosmetic procedures may include fat transfer or fillers to improve the appearance of fat loss in the affected areas. You may also like to consider speaking to a mental health professional if you feel that it would be beneficial.
For people who have HIV associated lipodystrophy, your doctor may consider switching medications. However, this will not restore the loss of fat in the affected area.
The outcome of lipodystrophy depends on what type of lipodystrophy you have. It is important to manage any of the previously mentioned medical problems that occur with lipodystrophy, as they can have severe complications.
This information has been written by Dr. Samantha Ting and Dr. David Cook
Published February 2020