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Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [40] Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15. [40] Type II Gaucher's disease shows no particular preference for any ethnic group. [citation needed]
Other risk factors include radiation therapy, chemotherapy, and organ transplantation. [1] Osteonecrosis is also associated with cancer, lupus, sickle cell disease, [11] HIV infection, Gaucher's disease, and Caisson disease (dysbaric osteonecrosis). [1] [12] Bisphosphonates are associated with osteonecrosis of the mandible (jawbone). [13]
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
They are generally inherited in an autosomal recessive fashion, but Fabry disease is X-linked. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000. Enzyme replacement therapy is available mainly to treat Fabry disease and Gaucher disease and people with these types of sphingolipidoses may live well into adulthood ...
For example, various Global Burden of Disease Studies investigate such factors and quantify recent developments – one such systematic analysis analyzed the (non)progress on cancer and its causes during the 2010–19-decade, indicating that 2019, ~44% of all cancer deaths – or ~4.5 M deaths or ~105 million lost disability-adjusted life years ...
For example, two mutations in the glucocerebrosidase gene each cause Gaucher's disease in Ashkenazim, which is that group's most common genetic disease, but only one of these mutations is found in non-Jewish groups. [5] A few diseases are unique to this group; familial dysautonomia, for example, is almost unknown in other peoples. [5]
Sidransky's research includes both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified glucocerebrosidase as a risk factor for parkinsonism. She led two large international collaborative studies regarding the genetics of Parkinson's disease and dementia with Lewy bodies.
Miglustat is indicated to treat adults with mild to moderate type I Gaucher disease for whom enzyme replacement therapy is unsuitable. [14]In the European Union, miglustat (Opfolda), in combination with cipaglucosidase alfa, is a long-term enzyme replacement therapy in adults with late-onset Pompe disease (acid α‑glucosidase [GAA] deficiency).