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Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Signs and symptoms typically develop in the pre-teen years and may include enlarged liver and spleen (hepatosplenomegaly), short stature, problems with lung function including frequent lung infections, and a low number of platelets in the blood (thrombocytopenia). Niemann-Pick disease type B is caused by changes (mutations or variants) in the SMPD1 gene. It is inherited in an autosomal recessive fashion. Treatment is aimed at addressing the symptoms present in each individual. Bone marrow transplantation has been attempted in a few individuals. Researchers are working to develop additional options for treatment, including enzyme replacement and gene therapy.
Source: GARD Last updated on 05-01-20
The age of onset and rate of disease progression varies greatly among people with Niemann-Pick disease type B (NPD type B), but survival into adulthood is common. Signs and symptoms usually begin in early childhood but sometimes do not appear until adulthood. Signs and symptoms may include:
People with NPD type B usually do not have neurologic symptoms. However, some people with a more severe variant have greater severity of the symptoms above, as well as neurologic features such as ataxia, gross motor delays, learning difficulties, intellectual disabilities, psychiatric disorders, and/or nystagmus. When present, it is uncommon for neurologic features to be progressive or severe.
Of note, NPD type B differs significantly from NPD type A (a more severe, early-onset form of NPD), in which symptoms appear in early infancy, development does not progress beyond the 12-month level, and survival beyond age three is uncommon.
Last updated on 05-01-20
Currently, we are not aware of an association between Niemann-Pick disease type B and cellulite. People with Niemann-Pick disease have an abnormal lipid (fat) metabolism which causes lipids to build-up in the spleen, lung, liver, bone marrow, and brain. Signs and symptoms may include enlarged liver and spleen (hepatosplenomegaly), reduced growth, frequent lung infections, and reduced numbers of blood cells involved in clotting (platelets).
Cellulite is often found in the pelvis, thighs, and abdomen. It is estimated to affect 85% to 95% of women. According to a review article on cellulite by Khan MH et al., 2010, cellulite is thought to result from the "herniation of subcutaneous fat within fibrous connective tissue." The underlying cause for this herniation is not well understood, and is likely multifaceted.
You can read more about cellulite at the following link to MedlinePlus.gov.
Last updated on 05-01-20
Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. 2004 Dec;114(6):e672-7.
Last updated on 04-27-20
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