What is lipodystrophy syndrome?
Lipodystrophy—also known as fat redistribution syndrome—is a medical condition that is characterised by varying degree of body fat loss. This medical condition is usually classified based on the severity and locality of body fat loss and whether the disorder is genetics of acquired. The following details the general classification of major lipodystrophy subtypes:
- Congenital Generalised Lipodystrophy (CGL): This rare disorder—also known as Berardinelli-Seip congenital lipodystrophy—is caused by an autosomal recessive inheritance and results in a near total loss of adipose tissues at birth or during infancy. The magnitude of fat loss directly correlates to the severity of metabolic complications such as insulin resistance.
- Familial Partial Lipodystrophy (FPL): This condition presents with varying degrees of loss of subcutaneous body fat from the upper and lower limbs as well as the truncal region during puberty or later. It is caused by autosomal dominant inheritance.
- Acquired Generalised Lipodystrophy (AGL): This medical condition—usually referred to as Lawrence-Seip syndrome—is marked by gradual loss of subcutaneous fat from nearly all parts of the body. Though its exact cause remains unknown, this condition is usually triggered by autoimmune diseases.
- Acquired Partial Lipodystrophy (APL): This ailment—sometimes known as Barraquer-Simons syndrome—is characterised by the progressive loss of body fat from the upper body, including the face, neck, shoulders, arms, forearms, and truncal region during childhood. Approximately 1 in 5 patients diagnosed with APL will develop membranoproliferative glomerulonephritis, inflammatory disease of the glomeruli.
- HAART-induced Lipodystrophy in HIV Patients: This condition is vastly observed in patients who are diagnosed with Human Immunodeficiency Virus (HIV) infections and subsequently prescribed highly active antiretroviral therapy (HAART) to suppress the growth of the virus. Most patients diagnosed with this subtype of lipodystrophy are presented with fat buildup on the back of the neck (buffalo hump) and even just under the skin (lipomas), or loss of fat tissues in the face, arms, legs, and buttocks.
- Localised Lipodystrophy: This condition is used to describe areas that undergo loss of fat tissues due to repeated administrations of injectables like insulin and steroid.
What are the symptoms of lipodystrophy?
Most often than not, the degree of fat loss may influence the severity of metabolic complications that patients may develop. While some patients may only experience aesthetic imperfections caused by abnormal fat redistribution, another group of patients may suffer from serious metabolic side effects. Nevertheless, the symptoms of lipodystrophy can be categorised into 2 classes:
- Physical symptoms: As explained earlier, the exact location of unintentional loss or gain of fat tissues varies greatly on an individual basis as well as the subtype of lipodystrophy that the patients are diagnosed with. Most patients who do experience fat loss—also called lipoatrophy—in areas like the face (e.g. cheeks and temples), buttocks, legs, and arms. The loss of facial subcutaneous fat may make a patient look emaciated and tired, while the loss of bodily fat may make the veins more visible instead. On the other hand, patients with lipodystrophy may also experience unintended deposits of fat tissues in commonly affected areas such as the back of the neck (buffalo hump) and around the abdomen (truncal obesity). Female patients may also undergo an increase in breast size.
- Metabolic Changes: Besides the obvious physical changes, patients diagnosed with lipodystrophy will also undergo numerous metabolic changes. Some of the most common metabolic disorders are insulin resistance, dyslipidemia (abnormal levels of lipids). These conditions may stem from the antiretroviral medications prescribed or even the genetic predisposition of a patient.
Besides the 2 major symptoms stated above, patients with lipodystrophy, especially CGL, FPL, and AGL subtypes, may also experience an increase in appetite due to heightened levels of leptin, the hormone responsible for regulating energy balance by inhibiting hunger.
How is lipodystrophy diagnosed?
This condition is diagnosed after the patient has undergone a thorough physical, biochemical, and clinical assessments. Physical manifestations of abnormal accumulation or loss of fat tissues must be examined for characteristic clinical symptoms and signs. Patient’s blood test readings, especially the leptin levels, will also give a better understanding of the patient’s health status and can confirm the presence of other metabolic problems like diabetes and elevated blood lipid levels. In some circumstances, genetic testing can also determine the subtype of lipodystrophy and aid in the treatment.
The treatment for lipodystrophy includes lifestyle modifications to manage the accompanying metabolic syndrome as well as cosmetic surgery. Patients who do develop one of the metabolic syndromes are advised to follow a healthy diet that is low in saturated fat, trans fat, refined sugars, and alcohol. They should increase their intake of fibre-rich foods like vegetables, nuts, legumes, and fruits that may work well in controlling insulin resistance and decreasing abdominal fat. Besides that, physical activity, especially weight training and aerobic exercises, are recommend as they help to tone muscles and improve the cardiovascular function. In addition, some medications like metformin and exogenous growth hormone can improve insulin resistance and elevated blood lipid levels. Not only that, patients with generalised lipodystrophy (GL) with abnormal leptin levels may be prescribed medication. Cosmetic enhancements using semi-permanent dermal fillers (e.g. Sculptra) may be done to improve the appearance of sunken facial areas.