A young female with hepato-splenomegaly, thrombocytopenia, and lytic bone lesions.

An 18-year-old female was investigated for fatigue and easy bruising. She was found to have hepato-splenomegaly, thrombocytopenia, and lytic bone lesions at distal parts of both femurs.

Which of the following is more likely to be diagnostic of this case?

A- Elevated blood lactic acid.

B- Low peripheral blood leukocyte glucocerebrosidase activity.

C- Low serum alpha 1-antitrypsin.

D- Low activity of glucose-6-phosphate dehydrogenase in a leukocyte-depleted blood sample.

E- Low leukocyte  alpha-galactosidase.

Check the answer below

The answer is B

The features are highly suggestive of Type 1 Gaucher disease, and the diagnosis is confirmed by a peripheral blood leukocytes glucocerebrosidase activity of less than 15%

Elevated blood lactic acid is helpful in diagnosing mitochondrial cytopathies.

Low serum alpha 1-antitrypsin is diagnostic of alpha 1-antitrypsin deficiency.

Low activity of Glucose-6-Phosphate Dehydrogenase in a leukocyte-depleted blood sample is diagnostic of Glucose-6-Phosphate Dehydrogenase deficiency.

Low leukocyte  alpha-galactosidase deficiency is diagnostic of Fabry disease.

None of the latter four conditions can fit the clinical features of this patient.