Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: A case report with review of the literature

Abstract

Gray platelet syndrome (GPS) is a rare bleeding disorder characterized by thrombocytopenia, agranular gray platelets in blood films, and almost total absence of platelet alpha-granules and their constituents. We describe here a rare case of GPS with myelofibrosis and splenomegaly indicating extramedullary hematopoiesis. Splenectomy was followed by normalization of platelet count but the bleeding diathesis continued. Based on a follow-up of more than 15 years, the slight myelofibrosis in our patient seems to be non-progressive. We also summarize the major clinical and laboratory features of previously published cases of GPS in order to obtain more comprehensive understanding of this rare disorder. From the clinical point of view, the bleeding tendency in this syndrome generally varies from mild to moderate, and no specific treatment is usually needed. Careful examination of peripheral blood films is necessary for the diagnosis of this rare syndrome.

Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice

“…Platelets of patients with GPS appear gray and enlarged in the light microscope and may aggregate poorly upon stimulation with thrombin and collagen (13). In addition, most patients with GPS show mild thrombocytopenia, splenomegaly, myelofibrosis, and a mild to moderate bleeding tendency, although rare cases of severe hemorrhage have also been reported (12,14,15).…”

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

“…3,5 The number of megakaryocytes in the bone marrow is normal, but platelet survival is reduced. 6 The shortened survival of ␣-granule-deficient platelets and the inability of defective megakaryocytes to mature normally are thought to contribute to the thrombocytopenia of GPS.…”

“…6 The shortened survival of ␣-granule-deficient platelets and the inability of defective megakaryocytes to mature normally are thought to contribute to the thrombocytopenia of GPS. Myelofibrosis 3,10,26 and splenomegaly 1,3,5,14,26 occur in GPS.…”

“…3,5,10,26,27 In vitro platelet aggregation tests give variable results. 3 Treatment is nonspecific and includes platelet transfusions before surgeries, DDAVP (1-desamino-8-D-arginine vasopressin), and splenectomy.…”

“…[1][2][3] Since its initial description in 1971, GPS has been reported in various populations. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] The diagnosis of GPS requires demonstration of the absence or marked reduction of ␣-granules in platelets observed by electron microscopy (EM). 2,22,23 Megakaryocytes also show decreased ␣-granules.…”