Effort bruising disclosing Gaucher disease in a 55‐year‐old non‐Jewish woman

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A 55-year-old previously healthy non-Jewish caucasian woman, working as a psychiatrist, presented with a several-months-long history of general weakness. The pastmedical history revealed effort bruising (Fig. 1) after harder physical work or intensive training from the age of 12 years, and periodic bilateral knee pain from the age of 15. The family history was not contributory. Full blood count showed Hb 114 g/L, WBC 3.27 10/L and platelet count 69 10/L. Laboratory investigations revealed normal liver function tests and APTT, but pathological values were observed for INR (1.3; normal range 0.9–1.2) and ferritin (817 mg/L; normal range 20–300). Neither hepatosplenomegaly nor lymphadenopathy was detected on physical examination, but further computed tomography (CT) imaging revealed slightly enlarged spleen (13.58 7.95 cm) without focal lesions (Fig. 2). Chronic ITP (idiopathic thrombocytopenic purpura) or other haematological disorder (e.g. lymphoma, myelodysplastic syndrome) was suspected, and bone marrow examination was performed, disclosing the presence of large cells with slightly basophilic, fibrillary cytoplasm (Fcrumpled tissue paper_ appearance) and eccentrically placed nuclei. These cells were identified as Gaucher cells (Figs. 3 and 4). The diagnosis of Gaucher disease (GD) was confirmed by a low activity of glucocerebrosidase in peripheral blood leukocytes (0.02 mkat/kg protein; normal range 0.2–0.7) and increased activity of plasma chitotriosidase (3260 mmol/h per L; normal range 9–244). Further direct DNA sequencing disclosed the mutation c.1226A>G (N370S) in the GBA1 gene. DNA sequencing suggested that the patient is probably homozygous for c.1226A>G, but hemizygosity with deletion in the second allele cannot be excluded. Once the diagnosis of GD was confirmed, additional work-up was conducted to establish possible additional reasons for bruising, other than thrombocytopenia. Serum protein electrophoresis and immunofixation test showed polyclonal IgM hyperglobulinaemia (3.84 g/L; normal range 0.3–2.8) without any further immunoglobulin abnormalities. Coagulation work-up revealed only border value of P-Factor XI (60%; normal range 60–140%), minimally decreased P-Factor XIII (69%; normal range 70–140%). P-Factor IX:C (0.77 kIE/L; normal values 0.45–1.90) and all other coagulation factors were within the normal limits. No platelet aggregation defects were detected. The patient did not use any antiplatelet (e.g. acetylsalicylic acid) or anticoagulant (e.g. warfarin) drugs. She was taking ascorbic acid and tranexamic acid daily in order to minimize the extent of bruising. Gaucher disease type I (GD I) can be found in all ethnic groups, but it is particularly prevalent among Ashkenazi Jews. In the general population GD I is J Inherit Metab Dis (2009) 32:758–761 DOI 10.1007/s10545-009-1217-6