Which are the symptoms of Familial Partial Lipodystrophy?

Familial Partial Lipodystrophy (FPL) is a rare genetic disorder characterized by the abnormal distribution of body fat. It is also known as Dunnigan-type lipodystrophy or adipose tissue dystrophy. FPL is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children.

Symptoms:

1. Loss of subcutaneous fat: One of the hallmark symptoms of FPL is the selective loss of fat tissue in specific areas of the body. This typically includes the arms, legs, buttocks, and face. As a result, affected individuals may have a thin or muscular appearance in these regions, while other areas may accumulate excess fat.

2. Metabolic abnormalities: FPL is often associated with metabolic disturbances, such as insulin resistance and dyslipidemia. Insulin resistance occurs when the body's cells do not respond properly to insulin, leading to elevated blood sugar levels. Dyslipidemia refers to abnormal levels of fats (lipids) in the blood, including high triglycerides and low levels of high-density lipoprotein (HDL) cholesterol.

3. Hypertriglyceridemia: Individuals with FPL commonly experience high levels of triglycerides, a type of fat found in the blood. This can increase the risk of developing cardiovascular problems, such as heart disease and pancreatitis.

4. Insulin resistance and diabetes: Due to the metabolic abnormalities associated with FPL, affected individuals are at an increased risk of developing type 2 diabetes. Insulin resistance, combined with the abnormal fat distribution, contributes to impaired glucose metabolism.

5. Acromegaloid features: Some individuals with FPL may exhibit acromegaloid features, which include enlarged hands and feet, thickened skin, and prominent veins. These features are more commonly observed in later stages of the condition.

6. Polycystic ovary syndrome (PCOS): Women with FPL may have an increased prevalence of PCOS, a hormonal disorder characterized by enlarged ovaries with small cysts. PCOS can lead to menstrual irregularities, infertility, and other complications.

7. Other associated conditions: FPL has been linked to various additional health issues, including hypertension (high blood pressure), fatty liver disease, and cardiovascular complications.

It is important to note that the severity and specific symptoms of FPL can vary among affected individuals. Some individuals may experience a milder form of the condition, while others may have more pronounced features and complications.