Berardinelli Seip Congenital Lipodystrophy

Definition

Definition of Berardinelli Seip Congenital Lipodystrophy
Berardinelli-Seip congenital lipodystrophy is a rare condition characterized by a lack of fatty (adipose) tissue in the body. This lack of adipose tissue means that fats must be stored elsewhere in the body, such as in the liver and muscles. The abnormal handling and storage of fats leads to serious medical problems.

Symptoms

Symptoms of Berardinelli Seip Congenital Lipodystrophy
The signs and symptoms of Berardinelli-Seip congenital lipodystrophy are apparent from birth or early infancy. Common features of this disorder include high levels of fats (triglycerides) circulating in the bloodstream (hypertriglyceridemia) and insulin resistance, a condition in which the body's tissues are unable to recognize insulin. Insulin is a hormone that helps regulate blood sugar levels. During adolescence, insulin resistance may develop into a more serious disease called diabetes mellitus. Berardinelli-Seip congenital lipodystrophy also causes an abnormal buildup of fats in the liver (hepatic steatosis), which can damage this organ. An accumulation of fats in the heart can cause a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart failure and sudden death.

Causes

Causes of Berardinelli Seip Congenital Lipodystrophy
People with Berardinelli-Seip congenital lipodystrophy have a distinctive physical appearance. The combination of an almost total absence of adipose tissue and an overgrowth of muscle tissue makes these individuals appear very muscular. They also tend to have a large chin, prominent bones above the eyes (orbital ridges), and large hands and feet. Affected females may have an enlarged clitoris (clitoromegaly), and males also tend to have enlarged external genitalia. Many people with this disorder develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. Acanthosis nigricans causes the skin in body folds and creases to become thick, dark, and velvety.

Diagnosis

Diagnosis of Berardinelli Seip Congenital Lipodystrophy
The diagnosis of BSCL is established by clinical findings including lipoatrophy affecting the trunk, limbs, and face; acromegaloid features; hepatomegaly; elevated serum concentration of triglycerides; and insulin resistance. Mutations in AGPAT2 and BSCL2 are known to be associated with Berardinelli-Seip congenital lipodystrophy type 1 and type 2, respectively. Molecular genetic testing is available on a clinical basis for both genes.

Treatment

Treatment of Berardinelli Seip Congenital Lipodystrophy

1. Treatment of manifestations: restriction of total fat intake between 20% and 30% of total dietary energy maintains normal triglyceride serum concentration. Diabetes mellitus is managed as in childhood-onset diabetes mellitus.
2. Surveillance: regular screening for glycosuria as a manifestation of diabetes mellitus, which usually starts in the teens (average age 12 years) but has also been described in infancy; monitoring for potential retinal, peripheral nerve, and renal complications of diabetes mellitus; yearly echocardiogram; yearly liver ultrasound examination to detect fatty infiltration.

Prognosis

Prognosis of Berardinelli Seip Congenital Lipodystrophy
Consult with your doctor.

Prevention

Prevention of Berardinelli Seip Congenital Lipodystrophy
Consult with your doctor.