WOLMAN DISEASE

• A rare genetic disorder characterized by complete absence of an enzyme known as lysosomal acid lipase

Symptoms

• Vomiting
• Diarrhea
• Poor weight gain
• Low muscle tone
• Developmental delay
• Enlarged liver and spleen
• Low amounts of iron in the blood
• Poor absorption of nutrients from food
• A yellow tint to the skin and the whites of the eyes
• Inability to metabolize fats(malnutrition)

Causes

• Mutations in the LIPA gene triglycerides and cholesterol build up within the body and are deposited in the adrenal glands, spleen, liver, intestines, and lymph nodes
• Inherited as an autosomal recessive trait

Risk Factors

• Mutations of a specific gene
• Diagnostic Tests
• CT
• X-ray
• MRI
• Treatments
• IV nutrition
• Bone marrow transplant caused remission in one patient
• Blood transfusions if anemia develops
• Surgical removal of enlarged spleen
• Dietary measures to control body lipid levels
• Medications
• Cholestyramine
• Questran
• Questran light
• Novo-Cholamine
• Novo-Cholamine Light
• Prevalite
• Lifestyle Management
• Genetic testing for family members
• Genetic prenatal diagnosis of pregnancies for women