Lipodisztrófiák

Lipodisztrófiák refers to a group of rare genetic or acquired disorders characterized by the selective loss or accumulation of adipose tissue. These conditions disrupt the normal distribution and metabolic function of fat throughout the body. The spectrum of lipodystrophy is broad, ranging from generalized lipodystrophy, where there is a significant loss of fat from almost all body areas, to partial lipodystrophies, affecting specific regions.

The causes of lipodystrophies are diverse. Genetic forms are often due to mutations in genes involved in adipocyte differentiation, lipid metabolism, or energy homeostasis. Acquired lipodystrophies can arise from autoimmune diseases, certain medications, or infections.

The consequences of lipodystrophy are often severe and extend beyond cosmetic concerns. The absence or dysfunction of adipose tissue impairs the body's ability to store and release fatty acids, leading to ectopic fat accumulation in organs such as the liver, muscles, and pancreas. This can result in serious metabolic complications including severe insulin resistance, diabetes mellitus, hypertriglyceridemia, hepatic steatosis, and cardiovascular disease.

Diagnosis typically involves a comprehensive clinical evaluation, laboratory tests to assess metabolic derangements, and sometimes genetic testing. Treatment is largely supportive and focuses on managing the metabolic complications through dietary modifications, exercise, and pharmacotherapy to control hyperglycemia, dyslipidemia, and other related conditions. Research into the underlying mechanisms of lipodystrophy is ongoing, with the aim of developing more targeted and effective therapies.