Allagile Syndrome

Causes

Alagille syndrome (AS) is an autosomal dominant disorder associated with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. In that condition bile builds up in the liver because there are too few bile ducts to drain the bile. This results in liver damage.

Symptoms and Signs

Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes(jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas).

Diagnosis

• Difficult to diagnose
• Laboratory studies
• Imaging studies
• Liver biopsy

Treatment

• Symptomatic treatment
• Nutrition
• Surgical interventions

All Treatment aim to improve bile excretion from liver