Gaucher's disease

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Summary of Gaucher's disease

Gaucher's disease is a lysosomal storage disorder characterized by deficiency of the enzyme glucocerebrosidase and subsequent glucocerebroside accumulation, particularly in white blood cells and macrophages (mononuclear leukocytes) as well as the spleen, liver, kidneys, lungs, brain, and bone marrow.

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Gaucher's disease

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▪ Later symptoms ▫ Progressive renal failure, cardiovascular disease, heat/cold intolerance, hypohidrosis (decreased sweat production), hearing loss DIAGNOSIS LAB RESULTS ▪ Enzymatic assay for alpha galactosidase ▪ Genetic testing TREATMENT OTHER INTERVENTIONS Figure 52.1 Numerous angiokeratomas on the skin of an individual with Fabry disease. ▪ Symptom management (e.g., analgesics) ▪ Enzyme replacement therapy ▪ Gene therapy GAUCHER'S DISEASE osms.it/gauchers-disease PATHOLOGY & CAUSES ▪ Most common lysosomal storage disease ▪ Lysosomal enzyme glucocerebrosidase deﬁciency ▪ → Accumulation of sphingolipid glucocerebroside in cellular lysosomes, particularly macrophages resembling crumpled tissue paper (AKA Gaucher cells) ▪ Glucocerebroside also deposits in liver, spleen, bone marrow, bones, kidneys, lungs, central nervous system (CNS) ▪ Autosomal recessive pattern of inheritance TYPES ▪ Three types based upon CNS involvement ▫ Type I: absence of CNS involvement ▫ Type II: acute neuronopathic form ▫ Type III: subacute or chronic neuronopathic form 296 OSMOSIS.ORG COMPLICATIONS ▪ Thrombocytopenia, anemia, bone disease, neurological deﬁcits SIGNS & SYMPTOMS ▪ Hepatosplenomegaly ▪ Pancytopenia, due to bone marrow inﬁltration with Gaucher cells, hypersplenism, leads to ▫ Easy bruising (thrombocytopenia) ▫ Fatigue (anemia) ▪ Bone disease (e.g., osteoporosis, aseptic necrosis of various bones); most commonly affects the femur ▪ Neurological complications (e.g. seizures, hypotonia, cognitive/olfactory abnormalities) present only in types II, III

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Gaucher's disease

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The gold standard for the diagnosis of Gaucher disease is .

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A 45-year-old woman presents to her physician complaining of intense hip and leg pain. The pain is severe enough to limit movement and wake her from sleep. Upon physical exam, severe hepatomegaly and splenomegaly are noted. Blood is drawn and a complete blood count obtained:RBCs: 3*10⁶ cells/microliter (normal 3.8-5.3*10⁶/uL)WBCs: 3.8*10³ cells/microliter (normal 4.5-11 *10³/uL)Platlets: 50*10³ /microliter (normal 150-440 *10³/uL)Hematocrit: 33% (35-47%)Hemoglobin: 10 g/dL (normal 11.7-16.0 g/dL)
An MRI of the thigh was also obtained: A mutation in which of the following genes has most likely lead to this woman's symptoms?
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