E75.5

Applicable To

• Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]

• Wolman’s disease

Approximate Synonyms

• Cholesterol ester storage disease

• Neutral lipid storage disorder

• Tendon xanthoma

• Triglyceride storage disease with ichthyosis

• Xanthoma tendinosum

Clinical Information

• A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the lipa gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.

• Severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.

• The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase sterol esterase). It is characterized by the accumulation of neutral lipids, particularly cholesterol esters in leukocytes, fibroblasts, and hepatocytes. It is also known as wolman’s xanthomatosis and is an allelic variant of cholesterol ester storage disease.

Details

• E75.5 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E75.5 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E75.5 – other international versions of ICD-10 E75.5 may differ.