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.