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Niemann-Pick disease type B
Niemann-Pick disease is an inherited condition characterized by abnormal lipid metabolism, which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain
Prevalence
1-9 / 1,000,000
Age of Onset
ICD-10
E75.2
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Type B patients also show hepatosplenomegaly and pathologic alterations of their lungs but usually without central nervous system involvement
FACT
Signs and symptoms typically develop in the pre-teen years and may include hepatosplenomegaly, short stature, frequent lung infections, and thrombocytopenia
FACT
Some patients develop coronary artery or valvular heart disease
FACT
In a longitudinal natural history study, nearly 20% of the patients died
FACT
Mutations in the SMPD1 gene cause Niemann–Pick disease type B
Interest over time
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Common signs & symptoms
Abnormal blood gas level
Abnormal pulmonary Interstitial morphology
Cherry red spot of the macula
Decreased HDL cholesterol concentration
Delayed puberty
Delayed skeletal maturation
Hepatomegaly
Hypersplenism
Current treatments
Enzyme replacement therapy (ERT)
Although not specifically approved for Niemann-Pick disease type B, ERT with recombinant human acid sphingomyelinase has shown some promise in preclinical and clinical studies. This therapy aims to replace the deficient enzyme in affected individuals.
Hematopoietic stem cell transplantation (HSCT)
HSCT may be considered in some cases, particularly in individuals with severe forms of Niemann-Pick disease type B. HSCT involves replacing defective bone marrow cells with healthy ones from a donor, potentially slowing down the progression of the disease.
Supportive care
This includes treatments to manage symptoms and complications of the disease. For example, physical therapy may help maintain mobility, while medications can help manage pain or other symptoms.