Berardinelli-Seip syndrome

Berardinelli-Seip syndrome
Synonyms	Congenital generalized lipodystrophy
Pronounce	N/A
Specialty	N/A
Symptoms	Lack of adipose tissue, insulin resistance, acanthosis nigricans
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, lifestyle modifications
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Berardinelli-Seip syndrome, also known as congenital generalized lipodystrophy, is a rare genetic disorder characterized by the near-total absence of adipose tissue, leading to a variety of metabolic complications. This condition is named after the physicians who first described it, Waldemar Berardinelli and Martin Seip.

Presentation

Individuals with Berardinelli-Seip syndrome typically present with a lack of subcutaneous fat from birth, which results in a muscular appearance. The absence of adipose tissue leads to the storage of fat in other tissues, such as the liver and muscles, causing complications like hepatomegaly and insulin resistance. Common symptoms include:

• Acanthosis nigricans
• Hypertriglyceridemia
• Insulin resistance
• Hepatomegaly
• Cardiomyopathy

Genetics

Berardinelli-Seip syndrome is primarily caused by mutations in the AGPAT2 or BSCL2 genes. These genes are involved in the normal development and function of adipose tissue. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene to be affected.

Diagnosis

Diagnosis of Berardinelli-Seip syndrome is based on clinical evaluation and confirmed through genetic testing. Key diagnostic features include the absence of adipose tissue, metabolic abnormalities, and characteristic physical features.

Management

There is no cure for Berardinelli-Seip syndrome, and treatment focuses on managing symptoms and preventing complications. Management strategies include:

• Dietary modifications to control hypertriglyceridemia
• Medications to improve insulin sensitivity
• Regular monitoring of liver function and cardiovascular health

Prognosis

The prognosis for individuals with Berardinelli-Seip syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early diagnosis and intervention can improve quality of life and reduce the risk of complications.

Also see

• Lipodystrophy
• Insulin resistance
• Genetic disorders
• Metabolic syndrome

NIH genetic and rare disease info

• NIH info on Berardinelli-Seip syndrome

Berardinelli-Seip syndrome is a rare disease.