From the Guidelines
Familial type 6 lipodystrophy is not explicitly described in the provided evidence, however, it can be inferred that it is a rare genetic disorder characterized by the abnormal distribution and loss of adipose tissue. The provided evidence discusses various forms of lipodystrophy, including congenital generalized lipodystrophy and familial partial lipodystrophy, which are rare autosomal recessive and dominant disorders, respectively 1. These disorders involve the loss of adipose tissue, which can lead to hypertriglyceridemia, low HDL-C, and other metabolic derangements 1. Some forms of lipodystrophy, such as the Dunnigan variety, are caused by defects in specific genes, like the gene for lamin A 1. However, the evidence does not provide specific information on familial type 6 lipodystrophy, and therefore, its characteristics and management can only be inferred based on the provided information on other forms of lipodystrophy. Key aspects of lipodystrophy management include:
- Treating metabolic complications through diet and exercise
- Using medications like metformin for diabetes and fibrates or statins for dyslipidemia
- Regular monitoring of blood glucose, lipid levels, and liver function
- Genetic counseling for affected individuals and their families, as these conditions are often inherited in an autosomal recessive or dominant pattern 1.
From the Research
Definition and Classification of Lipodystrophy
- Lipodystrophies are a group of rare, heterogeneous disorders characterized by a lack or maldistribution of adipose tissue 2.
- Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat 3.
- FPLD presents with genetic and phenotypic variability with insulin resistance, hypertriglyceridemia, and hepatic steatosis being the cardinal metabolic features 4.
Types of Familial Partial Lipodystrophy
- The two most common types are FPLD type 2 and 3 5.
- Variants within LMNA and PPARG genes account for more than 50% of all reported FPLD cases 5.
- There is no specific information available on familial type 6 lipodystrophy in the provided studies.
Clinical Features and Metabolic Complications
- FPLD is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity 3.
- Metabolic complications include insulin resistance, lipoatrophic diabetes, dyslipidemia with severe hypertriglyceridemia, hypertension, or hepatic steatosis 5.
- Female patients often develop hyperandrogenism, hirsutism, polycystic ovaries, and infertility 5.
Diagnosis and Treatment
- Diagnosis relies predominantly on clinical findings, such as abnormal fat tissue topography and signs of insulin resistance, and is confirmed by genetic analysis 4.
- The treatment of patients with lipodystrophy has proven to be challenging, but the use of a human leptin analogue, metreleptin, has recently been approved in the management of FPLD 4.
- Preliminary data on the use of glucagon-like peptide 1 receptor agonists (GLP1 Ras) and sodium-glucose co-transporter 2 (SGLT2) inhibitors in cases of FPLD have shown promising results 4.