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Acid lipase disease

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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’s 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.

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