Platelet dysfunction as the presenting feature of atypical myelodysplasticsyndrome with monosomy 7, normal blood counts and no bleeding tendency

A 71-year-old male patient with atypical myelodysplastic syndrome showing m onosomy 7 is described. He presented with severe foot pains, trophic skin a nd nail changes, loss of distal pulses, all compatible with peripheral arte rial occlusive disease. He had completely normal blood counts and no bleedi ng tendency. Prolonged bleeding time was disclosed by chance, during routin e haemostatic studies. An acquired platelet dysfunction was considered, wit h prolonged bleeding time and large platelets that failed to aggregate in r esponse to arachidonic acid and that had impaired response to collagen and adrenaline. The bone marrow was hypercellular, with numerous dysplastic meg akaryocytes and two other slightly dysplastic myeloid lines. Cytogenetic an alyses of the bone marrow cells showed a mosaic karyotype: 46,XY/45,XY,-7. On angiography, bilateral thrombosis of the iliac, superficial femoral and popliteal arteries was disclosed. The patient was prepared with platelet tr ansfusions. Arterial thrombectomy and amputation of the left calf were perf ormed. Ten months later, his blood counts showed mild pancytopenia. He died at home. The authors discuss some clinical and pathogenetical aspects of s uch presentations of myelodysplastic syndromes.