Berardinelli–Seip congenital lipodystrophy

Berardinelli–Seip congenital lipodystrophy (also known as BSCL or Congenital generalized lipodystrophy) is a rare genetic disorder characterized by the near total absence of adipose tissue from birth or early infancy. This condition is named after the Brazilian doctor Waldemar Berardinelli and the Norwegian doctor Martin Seip who independently described the condition in the 1950s.

Etiology

BSCL is caused by mutations in one of four genes: AGPAT2, BSCL2, CAVIN1, and PTRF. These genes are involved in the development and function of adipocytes, the cells that store fat in the body. Mutations in these genes disrupt the normal development and function of adipocytes, leading to the characteristic features of BSCL.

Clinical Features

Individuals with BSCL have a near total absence of adipose tissue from birth or early infancy. This leads to a distinctive physical appearance characterized by prominent muscles, a protruding abdomen, and an enlarged clitoris or penis. Other features can include acanthosis nigricans, insulin resistance, diabetes mellitus, hypertriglyceridemia, hepatic steatosis, and cardiomyopathy.

Diagnosis

The diagnosis of BSCL is based on the clinical features, family history, and genetic testing. Genetic testing can confirm the diagnosis by identifying a mutation in one of the four genes associated with BSCL.

Treatment

There is currently no cure for BSCL. Treatment is aimed at managing the symptoms and preventing complications. This can include diet and exercise to control blood sugar levels, medication to manage diabetes and high triglyceride levels, and regular monitoring for heart and liver disease.

Epidemiology

BSCL is a rare condition, with an estimated prevalence of 1 in 10 million individuals worldwide. It is more common in certain populations, such as individuals of Lebanese descent, due to a higher rate of consanguinity.

See Also

• Lipodystrophy
• Genetic disorder
• Adipose tissue

References

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