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This week we looked at a case of a patient with type 1 Gaucher’s disease . She was found to be mildly anaemia with a mild thrombocytopenia.
A CT scan revealed splenomegaly and blood tests showed a raised serum ACE and ferritin which are typically found in Gaucher’s disease.
A bone marrow biopsy was consistent with a diagnosis of Gaucher’s disease, and a glucocerebrosidase enzyme activity assay was reduced confirming the diagnosis of Gaucher’s disease. Genetic testing can also be done for homozygosity in N370S GBA gene which is found in the majority of cases of type 1 Gaucher’s disease.
Gaucher’s disease is a lipid storage disorder where glucosylceramide will accumulate in macrophages, and results from a deficiency in lysosomal hydrolase glucocerebrosidase.
Gaucher’s disease is an inherited autosomal recessive condition, and phenotype can vary greatly, with some patient’s not being diagnosed until very late in life, whereas other are diagnosed in infancy.
The prevalence of Gaucher’s disease varies in different populations and for type 1 Gaucher’s disease can be 1:50000-1:100000, and up to 1:850 in the Ashkenazi Jewish population. Type 3 Gaucher’s disease is most common in the Norrbottnian area of Sweden with a prevalence of 1:50000.
There are different types of Gaucher’s disease.
Type 1 Gaucher’s disease, as in our case, can present in childhood or adulthood, and some patient’s may have signs/symptoms for a few years before the diagnosis is made. This type of Gaucher’s does not usually result in brain or spinal cord involvement. Patient’s may present with anaemia, thrombocytopenia and hepatosplenomegally. There may also be lung and bony involvement – resulting in bone pain and fractures.
Type 2 and 3 Gaucher’s disease are known as nuronopathatic types as they will typically have nerve and spinal cord involvement. Patient’s can get the symptoms of type 1 Gaucher’s disease, but in addition will have central nervous symptom effects, such as seizures. Type 2 Gaucher’s disease will usually present in infancy. Type 3 Gaucher’s disease may progress slower than type 2.
In the severest cases Gaucher’s disease can cause in utero problems such as hydrops fetalis, organomegally and neurological problems and babies may die shortly after birth.
Treatment is with enzyme replacement therapy. An oral glucosylceramide inhibitor can also be considered.
Has anyone got any questions, or any knowledge they would like to add?
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