Acid lipase disease

Acid lipase disease
Synonyms	Wolman disease, Cholesteryl ester storage disease
Pronounce	N/A
Specialty	N/A
Symptoms	Hepatomegaly, Splenomegaly, Adrenal calcification, Failure to thrive
Complications	N/A
Onset	Infancy or childhood
Duration	Lifelong
Types	N/A
Causes	Mutations in the LIPA gene
Risks	Genetic predisposition
Diagnosis	Genetic testing, Liver biopsy, Blood test
Differential diagnosis	Niemann-Pick disease, Gaucher's disease
Prevention	N/A
Treatment	Enzyme replacement therapy, Hematopoietic stem cell transplantation
Medication	Sebelipase alfa
Prognosis	Variable, depending on the form and treatment
Frequency	Rare
Deaths	N/A

Acid lipase disease occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues.

Toxic buildup

These fatty substances, called lipids, that accumulate in the body include fatty acids, oils, and cholesterol.

Pathophysiology

There are two types of diseases caused by the acid lipase deficiency.

• Wolman‚Äôs disease is marked by the buildup of cholesteryl esters. Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, enlarged liver and grossly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden.
• Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.

Prognosis

Prognosis is usually poor and children with Wolman's die by age 1.

Diagnosis

Genetic testing

Treatment

Currently under investigation. Low cholesterol diet.

External links

• NINDS

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External links

• Comprehensive information from the National Institute of health.
  

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