Maladie de Wolman

Overview

Wolman Disease is a rare and severe genetic disorder caused by a deficiency of the enzyme lysosomal acid lipase (LAL). This leads to the accumulation of fats (lipids) in various organs such as the liver, spleen, intestines, and adrenal glands.

Wolman disease usually appears in infancy and progresses rapidly. It is a life-threatening condition that requires early diagnosis and specialized medical care.

Types of Wolman Disease

• Classic Wolman Disease: Severe form appearing in infancy
• Cholesteryl Ester Storage Disease (CESD): Milder, later-onset form

Symptoms of Wolman Disease

• Poor growth or failure to thrive
• Vomiting and diarrhea
• Enlarged liver and spleen (hepatosplenomegaly)
• Abdominal swelling
• Malnutrition
• Fatigue and weakness
• Calcium deposits in adrenal glands (seen on imaging)

Causes of Wolman Disease

• Mutation in the LIPA gene
• Deficiency of lysosomal acid lipase enzyme
• Autosomal recessive genetic inheritance
• Accumulation of lipids in body tissues

Complications of Wolman Disease

• Severe malnutrition
• Liver failure
• Organ damage
• Growth delay
• Life-threatening complications in infancy

Risk Factors of Wolman Disease

• Family history of the disease
• Genetic inheritance from both parents
• Consanguineous marriages (higher risk in some populations)

Prevention of Wolman Disease

• Genetic counseling for families
• Prenatal testing in high-risk cases
• Early diagnosis and intervention