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Wolman disease



Wolman disease
Classification & external resources
ICD-10 E75.5
ICD-9 272.7
OMIM 278000
DiseasesDB 31220
MeSH D015223

Wolman disease (also known as Wolman's disease, Wolman's syndrome, and acid lipase deficiency) is a rare lipid storage disease that is usually fatal at a very young age.[1]

Additional recommended knowledge

Contents

Inheritance and Diagnosis

 

Wolman disease is marked by accumulation of cholesteryl esters (normally a transport form of cholesterol) and triglycerides (a chemical form in which fats exist in the body) that can build up significantly and cause damage in the cells and tissues.

Symptoms

Infants may be normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly (enlarged liver and grossly enlarged spleen), distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting and calcium deposits in the adrenal glands, causing them to harden.

Prognosis

In the past, there has been no specific treatment for Wolman disease, although a single case patient has seen a complete, sustained remission after a bone marrow transplant, and if the results can be duplicated, this approach may become standard in the future.[1]

Patients with anemia may require blood transfusions. In some patients, the enlarged spleen must be removed to improve cardiopulmonary function. Restricting one’s diet does not prevent lipid buildup in cells and tissues.

Eponym

Wolman disease is named after Moshe Wolman.[2]

References

  1. ^ 00425 at CHORUS
  2. ^ synd/3122 at Who Named It
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Wolman_disease". A list of authors is available in Wikipedia.
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