Gaucher disease in a 53-year-old Iranian man.

Sir,

Gaucher disease (GD) is a rare genetic disorder. Glucocerebrosidase deficiency affects metabolism of cellular glycolipids, thus glucocerebroside deposites in the lysosomes of cells. GD is more common in the Ashkenazi Jewish population.[1]

Non-neuronopathic form (type-1, GD1) includes more than 90% of cases.[2] Acute neuronopathic form (type-2, GD2) includes 1% of cases and causes to death during infancy or the 1st years of life.[3]

Subacute or chronic neuronopathic form (GD3) includes 5% of cases and has a slower and later onset than GD2 and leads to death during childhood or early adulthood.[3]

A 53-year-old man was admitted with pancytopenia. He had history of easy bruising and prolonged bleeding following dental extraction for a long period. He had no fever, night sweat, and weight loss. Physical examination revealed massive hepatosplenomegaly. Laboratory findings were included: WBC = 2,800/μl, Hb = 8.5 g/dl, and PLT = 15,000/μl. Erythrocyte sedimentation rate (ESR), renal and liver function tests were normal. Abdominal sonography showed a huge nodular splenomegaly. Bone marrow aspiration showed a hypercellular polymorph marrow with increased megakaryopoiesis and an increased in number of macrophages with a crumpled tissue paper appearance and displaced nuclei (Gaucher cells) [Figure 1]. Bone marrow biopsy showed sheets of Gaucher cells [Figure 2]. The diagnosis of GD was made. Patient's blood sample was sent to Austria for enzyme assay.

Figure 1

A large macrophage with a crumpled tissue paper appearance and displaced nuclei (×1000)

Figure 2

Bone marrow biopsy, sheets of the Gaucher cells (×1000)

GD1 has asymptomatic or symptomatic variants. Symptomatic form present during childhood or the late adulthood but seldom may present in elderly.[45]

In this 53-year-old Iranian Muslim with GD1, all of his six siblings were asymptomatic in ages between 60 years and 80 years. Although he had prolonged bleeding and easy bruising for a long period, he did not take any medical attention. GD1 can occur in higher ages without positive family history. We should consider GD1 in differential diagnosis of pancytopenia and organomegaly in old age patients even in the absence of positive family history for GD.