MED INSIDER–DR RIA MASLOG
Gaucher’s Disease
Gaucher’s disease is the most frequent of the lipidoses.
What are Lipidoses? These are inborn errors of lipid metabolism.
In Gaucher’s disease, these errors are described as storage of cerebrosides that contains glucose instead of galactose.
Clinically, Gaucher’s disease has 3 types, namely, the Acute Type, the Subacute Type, and the Chronic or Adult Type.
Let us discuss each type now.
1. Acute type – this is at the early onset; there is abdominal enlargement due to enlargement of the spleen; then, hepatomegaly; lymphadenopathy is present; there is strabismus; there is dysphagia or pain on swallowing; in advance cases, there is opisthotonus and generalized spasticity; and the presence of decerebrate rigidity signifies terminal event.
2. Subacute type or juvenile Gaucher’s disease. This type has manifestations which may be shown during late childhood; there is hepatosplenomegaly; there is dementia; there are changes in behavior; the patient may experience seizures; and there could be anemia and low platelet count.
3. Chronic type or adult type – This is the third type where there is slow development of hepatic and splenic enlargement; the skin shows yellow or brownish tinge; there is hypersplenism; and the patient may have bone pains and deformities
There is no specific therapy for Gaucher’s Disease. In some cases, splenectomy is done for massive splenomegaly and hypersplenism. Some experts may also give corticosteroids to control bone pains and for those with bone abnormalities, they are being referred to orthopedic specialists.