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Mysterious Fat Syndrome: Do you know what the different types of lipoatrophy are?
Lipoatrophy syndrome is a group of diseases caused by genetic or acquired factors in which the body cannot effectively produce and maintain healthy fat tissue. This medical condition is characterized by abnormal or degenerative changes in the body's fatty tissue. When fat is lost in a specific area, usually the face, a more specific term is used called lipoatrophy, which comes from the Greek and means an abnormal or degenerative condition of fat.
Loss of adipose tissue is closely related to symptoms such as insulin resistance, hypertriglyceridemia, non-alcoholic fatty liver disease (NAFLD), and metabolic syndrome.
Different types of lipoatrophy
Lipoatrophy can be divided into the following types:
- Congenital lipoatrophy syndrome
- Congenital generalized lipoatrophy (Berardinelli-Seip syndrome)
- Familial partial lipoatrophy
- Marfanoid-progeria-lipoatrophy syndrome
- Chronic atypical neutrophilic dermatosis with lipoatrophy and hyperthermia syndrome
- Acquired lipoatrophy syndrome
- Acquired partial lipoatrophy (Barraquer-Simons syndrome)
- Acquired generalized lipoatrophy
- Peri-abdominal lipoatrophy (infant abdominal lipoatrophy)
- Annular lipoatrophy (Ferreira-Marques lipoatrophy)
- Local fat atrophy
- HIV-related lipoatrophy
Pathophysiology
Due to the insufficient capacity of the subcutaneous tissue to store fat, fat is deposited in non-adipose tissue, a phenomenon known as lipotoxicity, which leads to insulin resistance. Patients may develop hypertriglyceridemia, severe fatty liver disease, and little to no adipose tissue.
The average lifespan of patients with lipoatrophy is about 30 years, and liver failure is often the leading cause of death.
Effects of insulin injection
In people with diabetes, lipoatrophy may form small bumps or dents when the same area is injected repeatedly. This lipoatrophy is harmless and can be avoided by changing the injection site. Using purified insulin and using a new needle for each injection may help reduce related side effects.
In these cases, it is difficult to accurately calculate the dosage of the drug, which affects the treatment of the disease and worsens the patient's condition.
The impact of antiretroviral drugs
Certain antiretroviral drugs may cause lipoatrophy as a side effect, most commonly in patients receiving thymidine and older HIV treatments. Common symptoms include sunken cheeks and fatty growths on the back or neck (also known as buffalo shoulders).
Diagnosis and testing
Diagnosis of lipoatrophy is usually made by an experienced endocrinologist. Measuring skin thickness at different locations with skin fold calipers or performing a full-body composition scan using dual-energy X-ray absorptiometry can help identify subtypes of lipoatrophy. However, in up to 40% of some patients with lipoatrophy, the causative gene has not yet been identified.
Treatment methods
Human recombinant leptin replacement therapy (metreleptin) has been shown to be effective in improving the metabolic complications associated with lipoatrophy and has been approved by the FDA for the treatment of generalized lipoatrophy syndrome. In addition, Volanesorsen, an Apo-CIII inhibitor, is being studied to target high triglyceride levels in patients with familial partial lipoatrophy.
Epidemiology
According to current research, congenital lipoatrophy, caused by a genetic defect, is extremely rare and may only affect one in every million people. In contrast, acquired lipoatrophy is more common, especially in HIV-infected individuals.
The complexity and different types of manifestations of lipoatrophy syndrome make people wonder, can we find more effective treatments in the future to deal with these diseases that affect human health?
