Lipodystrophy is an extremely rare disorder that affects the fat stores in the body. There are different types of lipodystrophy, which vary in their onset and presentation.
In this article, we look at the symptoms and causes of lipodystrophy, as well as the treatment options and when to see a doctor.
Lipodystrophy is a disorder that affects how a person’s body accumulates and stores fat. People with this disease collect fat on certain areas of the body, such as the torso, face, and neck, while the legs and arms carry little to no fat.
In the most extreme cases of lipodystrophy, the body holds almost zero fat tissue, and the person looks extremely thin and muscular.
Lipodystrophy may cause other symptoms and issues. Metabolic complications, including increased hunger due to low levels of leptin, the hormone that signals satiation to the body, are common. Other complications include
Congenital generalized lipodystrophy
With congenital generalized lipodystrophy (CGL), a person is born with the disease and quickly starts losing weight a few weeks after birth. As infants, people with this condition hold almost zero subcutaneous (under the skin) fat and present with thin, muscular extremities.
Acquired generalized lipodystrophy
In acquired generalized lipodystrophy (AGL), also known as Lawrence syndrome, the onset occurs during adolescence with a similar presentation to CGL.
Experts have not confirmed any genetic causes, which is why its name includes the word “acquired” — meaning that it develops after birth.
Acquired partial lipodystrophy
Acquired partial lipodystrophy (APL) also develops after birth. People sometimes refer to it as Barraquer-Simons syndrome.
The loss of fat usually occurs at the face, neck, and upper extremities. The condition does not usually affect the lower limbs.
High active antiretroviral therapy-induced lipodystrophy
A person with LD-HIV gradually loses fat from their arms, legs, and face. This fat loss does not reverse when they stop taking antiretroviral medication.
The localized form of lipodystrophy usually affects people who have repeated daily injections — for example, people with diabetes who require regular insulin injections. The loss of fat occurs only at the injection site, creating a small dimple or crater. Rotating the injection site can help prevent localized lipodystrophy.
Congenital lipodystrophy has genetic factors.
|AGPAT2||loss of metabolically active fat|
|BSCL2||generalized absence of all fat tissue|
|CAV1||short stature, vitamin D resistance, low blood calcium, and low blood magnesium|
|PTRF||muscle weakness and skeletal abnormalities, gastrointestinal problems and abnormalities, and cardiac arrhythmias|
The acquired forms of lipodystrophy do not have a direct genetic cause and may occur without any clear medical reason.
In the case of LD-HIV, antiretroviral medication is the cause of the condition. Other medications can also cause lipodystrophy.
Researchers have hypothesized that autoimmune diseases are a possible cause of lipodystrophy. Conditions such as lupus, celiac disease, pernicious anemia, and vasculitis are commonly associated with lipodystrophy. Lipodystrophy affects four times as many females as males — a ratio similar to that of other autoimmune issues.
However, many causes of lipodystrophy are idiopathic, meaning that no genetic factor, family history, medication, or disease seems to be the cause of the condition.
To diagnose lipodystrophy, a
Lab tests, including blood chemical profiles and genetic testing, can also help identify lipodystrophy, but the diagnosis will primarily come from a clinical examination.
Although there is
In 2014, the Food and Drug Administration (FDA)
Lipodystrophy is a progressive condition that can cause serious complications,
Although doctors are unable to find a direct link,
People with lipodystrophy will have disproportionate fat accumulation on the body. This rare condition has many different forms and can be genetic or acquired.
Anyone with concerns about lipodystrophy should speak to a doctor for a diagnosis.