Cholemia, familial

Familial Cholemia

Familial Cholemia is a rare genetic disorder characterized by elevated levels of bile acids in the blood, leading to various clinical manifestations. This condition is inherited in an autosomal recessive pattern and is associated with mutations in genes responsible for bile acid metabolism.

Etiology

Familial Cholemia is caused by mutations in genes that are crucial for the normal metabolism and transport of bile acids. These mutations lead to an accumulation of bile acids in the bloodstream, which can cause damage to various organs and tissues.

Pathophysiology

Bile acids are synthesized in the liver from cholesterol and play a critical role in the digestion and absorption of dietary fats. In Familial Cholemia, the defective metabolism of bile acids results in their accumulation in the blood, a condition known as Cholemia. This can lead to liver damage, jaundice, and other systemic effects.

Clinical Features

Patients with Familial Cholemia may present with a range of symptoms, including:

• Jaundice
• Pruritus (itching)
• Fatigue
• Hepatomegaly (enlarged liver)
• Elevated liver enzymes

Diagnosis

The diagnosis of Familial Cholemia is based on clinical evaluation, laboratory tests showing elevated bile acid levels, and genetic testing to identify mutations in the relevant genes. Genetic testing is crucial for confirming the diagnosis and for family counseling.

Treatment

There is no cure for Familial Cholemia, but treatment focuses on managing symptoms and preventing complications. This may include:

• Ursodeoxycholic acid to help reduce bile acid levels
• Cholestyramine to bind bile acids in the intestine
• Liver transplantation in severe cases

Prognosis

The prognosis for individuals with Familial Cholemia varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management are essential for improving outcomes.

Research

Ongoing research is focused on understanding the genetic basis of Familial Cholemia and developing targeted therapies to correct the underlying metabolic defects.

See Also

• Bile acid metabolism
• Genetic disorders
• Liver diseases

NIH genetic and rare disease info

• NIH info on Cholemia, familial

Cholemia, familial is a rare disease.