Wolman's disease
Wolman's Disease
Wolman's disease (pronounced: /ˈwoʊlmənz diːziːz/), also known as Wolman syndrome, is a rare, fatal genetic disorder that affects the metabolism of lipids. It is named after Moshe Wolman, the Israeli pathologist who first described the condition in 1956.
Etymology
The disease is named after Moshe Wolman, an Israeli pathologist who first described the condition in 1956. The term "disease" comes from the Old French desaise, meaning lack of ease.
Definition
Wolman's disease is a severe form of lysosomal storage disease characterized by the complete absence or near-absence of two enzymes, acid lipase and cholesteryl ester hydrolase, that are responsible for metabolizing certain lipids. This leads to the accumulation of these lipids in various organs, causing severe health problems.
Symptoms
The symptoms of Wolman's disease typically appear within the first few weeks of life and may include jaundice, vomiting, diarrhea, an enlarged liver and spleen (hepatosplenomegaly), and failure to gain weight or grow at the expected rate (failure to thrive).
Diagnosis
Diagnosis of Wolman's disease is based on the clinical symptoms, biochemical tests showing a deficiency of the enzymes acid lipase and cholesteryl ester hydrolase, and genetic testing confirming mutations in the LIPA gene.
Treatment
There is currently no cure for Wolman's disease. Treatment is supportive and aims to manage the symptoms. This may include nutritional support, medications to control diarrhea and vomiting, and in some cases, bone marrow transplantation.
Prognosis
The prognosis for individuals with Wolman's disease is poor, with most affected individuals dying within the first year of life. However, early diagnosis and supportive care can improve the quality of life and may extend survival.
See also
External links
- Medical encyclopedia article on Wolman's disease
- Wikipedia's article - Wolman's disease
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