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What are Lipodystrophies?

Lipodystrophies are a group of rare genetic disorders characterized by a loss of fat tissue from the body. They can be inherited, acquired, or due to the body’s response to a medication. Fat loss affects different parts of the body, such as the face, arms, legs, hands, and feet. Other effects of lipodystrophies can vary, but can include diabetes, disrupted hormone levels, and potential life-threatening conditions such as fatty liver disease and disorders of the heart and blood vessels.

Types of Lipodystrophies

There are two main types of lipodystrophies, genetic and acquired. Genetic lipodystrophies are caused by a mutation in a specific gene and can be congenital or familial, meaning the disorder is present at birth or inherited from a family member. Common genetic lipodystrophies include the rare A-Z forms, as well as Berardinelli-Seip, Lawrence, and Hoffman syndromes.

Acquired lipodystrophies are caused by medications, such as HIV medications, some immunosuppressants used in organ transplants, and glucocorticoids used to treat some autoimmune conditions. Other causes of acquired lipodystrophies include malnutrition, chronic illnesses, and metabolic disturbances.

Symptoms of Lipodystrophies

The most common symptom of lipodystrophies is the loss of fat from the arms, legs, face, and trunk, which can create a sunken or gaunt appearance. Other symptoms may include:

  • Insulin resistance
  • Elevated levels of fatty acids in the blood
  • Elevated triglyceride levels
  • Type 2 diabetes
  • Excess fat deposits around the neck and abdominal area
  • Elevated blood pressure

Diagnosis and Treatment of Lipodystrophies

A diagnosis of lipodystrophies is made by a physician based on a physical exam and the patient's medical history. Blood tests may be done to measure levels of triglycerides, fatty acids, glucose, HDL cholesterol, and other hormones. Genetic testing may also be recommended for suspected cases of familial lipodystrophies.

Treatment for lipodystrophies is based on the type and severity of the disorder. Dietary modification and exercise can help reduce fatty acid levels and improve insulin sensitivity. Medications, such as metformin or other diabetes medicines, may be prescribed. In some cases, hormonal replacement therapy may be recommended. Surgery and liposuction may be used to reshape the body after fat loss.

Living with Lipodystrophies

Living with lipodystrophies can be difficult, as the disorder affects both physical and emotional well-being. It is important to take extra precautions to protect your health, such as monitoring blood sugar levels regularly, eating a healthy balanced diet, exercising regularly, and following up with your doctor for regular check-ups.

Proper management of the disorder can keep you feeling healthy and active. Finding support from family and friends, or joining an online support group, can be helpful for managing stress and living with a rare disorder.