From the Guidelines
Familial type 5 lipodystrophy is a rare genetic disorder characterized by abnormal fat distribution in the body, specifically involving the loss of subcutaneous fat from the extremities and accumulation of fat in the trunk, face, and neck. This condition is also known as Dunnigan-type familial partial lipodystrophy (FPLD2) and typically becomes apparent during puberty, especially in women 1. The disorder is caused by mutations in the LMNA gene, which provides instructions for making proteins called lamins A and C that play important roles in cell structure and function. Some key features of familial type 5 lipodystrophy include:
- Progressive loss of subcutaneous fat from the limbs, buttocks, and trunk
- Abnormal accumulation of fat in the face, neck, and intra-abdominal regions
- Metabolic complications such as insulin resistance, diabetes mellitus, high triglycerides, and low HDL cholesterol
- Increased risk of fatty liver disease and polycystic ovary syndrome in women
- Potential fertility issues in women The management of familial type 5 lipodystrophy focuses on treating the metabolic complications through:
- Diet and exercise
- Medications such as metformin for diabetes
- Statins or fibrates for dyslipidemia
- Leptin replacement therapy in some cases Early diagnosis and treatment are crucial to prevent long-term complications like cardiovascular disease, as seen in other lipodystrophic disorders 1.
From the Research
Definition and Classification of Lipodystrophy
- Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes mellitus and dyslipidemia 2.
- Lipodystrophy is classified as genetic or acquired and by the distribution of fat loss, which can be generalized or partial 2, 3.
Types of Lipodystrophy
- The two most common types of genetic lipodystrophies are autosomal recessive congenital generalized lipodystrophy and autosomal dominant familial partial lipodystrophy (FPL) 4.
- Familial partial lipodystrophy (FPL) is a type of lipodystrophy that is characterized by selective loss of body fat and predisposition to insulin resistance 4.
Familial Type 5 Lipodystrophy
- There is no specific information available on familial type 5 lipodystrophy in the provided studies.
- However, it can be inferred that familial type 5 lipodystrophy may be a subtype of familial partial lipodystrophy, which is characterized by selective loss of body fat and predisposition to insulin resistance 4.