Gaucher Disease

Gaucher disease is the most common inherited lysosomal storage disease.

Gaucher disease - a rare, inherited disorder - is characterized by decreased levels of the enzyme glucocerebrosidase. This deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte/macrophage system.

Lipid-engorged cells with eccentric nuclei, known as gaucher cells, constitute the primary defect in gaucher disease. Gaucher cells displace healthy, normal cells in the body - typically in the liver, spleen and bone marrow - which can lead to hepatosplenomegaly, organ dysfunction, and skeletal deterioration.

Three different patient profiles are associated with distinct disease classifications.

Type 1 chronic nonneuronopathic is the most common, affliction of both children and adults. This type is pan-ethnic, but more prevalent in people of eastern European ancestry.

Type 2 acute neuronopathic and type 3 subacute neuronopathic are characterized by central nervous system involvement. Type 2 patients rarely survive to age two.

Type 3 is characterized by a variable course of neurologic involvement. A distinct cluster of Type 3 disease has been described in the area of Norrbotten, Sweden.

Symptomatology

Gaucher disease is extremely heterogeneous. Although over 100 mutations in the glucocerebrosidase gene have been identified, there are patients with the same mutation who exhibit very different clinical courses.

Type 1 Gaucher disease presents with any one of the following symptoms:

Skeletal complications Gaucher patients can experience bone pain, bone lesions, osteopenia, osteonecrosis, avascular necrosis and pathological fractures - the most debilitating but often unrecognized manifestations of Gaucher disease.

Anemia Gaucher patients can experience fatigue, general weakness and failure to thrive.

Hepatosplenomegaly gaucher patients often have painless splenomegaly. It is sometimes coupled with splenic nodules and liver dysfunction.

Thrombocytopenia Gaucher patients can experience easy bruising and bleeding.

Delayed growth and pubertal development are common in children with Gaucher disease.

Diagnosis

Misdiagnosis is common due to wide variability in symtomatology. Some individuals are misdiagnosed 3 or 4 times with conditions such as leukaemia, lymphoma, or rheumatoid arthritis, before Gaucher disease is confirmed.

Spleen, liver, or bone marrow biopsies are sometimes performed and point towards a possible Gaucher disease diagnosis. This must be confirmed with an enzyme assay.

Enzyme analysis of leukocytes or fibroblast cultures will confirm or exclude the diagnosis of Gaucher disease.

Treatment

Enzyme replacement therapy (ERT) has become the worldwide treatment standard for Type 1 Gaucher disease, improving on current forms of palliative care such as splenectomy, blood and/or platelet transfusions, and orthopaedic interventions. ERT works in place of the missing enzyme and helps to break down the glucocerebroside that has accumulated in your body’s scavenger cells (macrophages).

ERT is currently administered intravenously every two weeks, and dosages are calculated on patient weight. Gaucher patients can expect to be on ERT indefinitely.

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