lipodystrofií

Lipodystrophies are a group of rare disorders characterized by the loss of adipose tissue, or body fat. This loss can be generalized, affecting the entire body, or partial, occurring in specific areas. The absence of fat can lead to a variety of metabolic complications, including insulin resistance, diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. The exact causes of lipodystrophies are not fully understood, but many are believed to be genetic in origin, resulting from mutations in genes involved in adipocyte differentiation and function. Some forms can also be acquired due to autoimmune diseases or certain medications.

The clinical presentation of lipodystrophy varies depending on the type and extent of fat loss. Generalized lipodystrophies often manifest in infancy or early childhood with a lack of subcutaneous fat, prominent muscles, and sometimes enlarged organs. Partial lipodystrophies can present later in life, with fat loss typically occurring in the face, neck, trunk, or limbs, while fat may accumulate in other areas, leading to a disproportional appearance. Diagnosis involves a combination of clinical examination, blood tests to assess metabolic abnormalities, and sometimes genetic testing or imaging studies. Treatment focuses on managing the associated metabolic complications through diet, exercise, medications to improve insulin sensitivity, and lipid-lowering agents. Leptin replacement therapy has shown promise in improving metabolic control in some forms of lipodystrophy. The prognosis depends on the specific type of lipodystrophy and the severity of its metabolic consequences.