Types II and III both have an incidence of approximately 1 in 100,000 in the general population.Ī diagnostic workup for Gaucher disease may demonstrate the characteristic finding of Gaucher cells on bone marrow examination, other hematologic abnormalities, and hepatosplenomegaly. The incidence of Gaucher disease type I ranges from 1 in 30,000 to 1 in 100,000 in the general population but is much more frequent among Ashkenazi Jews with an incidence of approximately 1 in 900. Currently, only supportive therapy is available for type II because of the inability of enzyme provided by replacement therapy to cross the blood-brain barrier. These treatment options have generally made bone marrow transplantation obsolete. Treatment is available in the form of enzyme replacement therapy or substrate reduction therapy for types I and III. Further subtypes of Gaucher disease include a perinatal lethal form associated with skin abnormalities and nonimmune hydrops fetalis, and a cardiovascular form presenting with calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and gaze impairment. Individuals with Gaucher disease type III may present prior to 2 years of age, but the progression is not as rapid, and patients may survive into the third and fourth decade. In addition, Type II typically presents with limited psychomotor development, hepatosplenomegaly, and lung disease, resulting in death usually between 2 and 4 years of age. Gaucher disease types II and III are characterized by the presence of primary neurologic disease. It is generally characterized by bone disease, hepatosplenomegaly, anemia and thrombocytopenia, coagulation abnormalities, lung disease, but no central nervous system involvement. Gaucher disease type I is the most common form, representing more than 90% of cases. Features of all types of Gaucher disease include hepatosplenomegaly and hematological abnormalities. There are 3 described types of Gaucher disease with varying clinical presentations and age of onset from a perinatal lethal disorder to a mildly symptomatic type. Gaucher disease is caused by variants in the GBA gene. Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme, beta-glucosidase, which facilitates the lysosomal degradation of glucosylceramide (glucocerebroside) and glucopsychosine (glucosylsphingosine: lyso-GL1). For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)ģ. For collection instructions, see Blood Spot Collection InstructionsĢ. Do not expose specimen to heat or direct sunlight.ġ. At least 1 spot should be complete, (ie, unpunched)ģ. Let blood dry completely on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.Ģ. Preferred: Blood Spot Collection (Filter Paper)Īcceptable: Whatman Protein Saver 903 filter paper, PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell filter paper, Postmortem Screening card, or collected with heparin or EDTA containingġ. Card-Postmortem Screening (Filter Paper) (T525) Card-Blood Spot Collection (Filter Paper) (T493)
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