Splenomegaly, Macrothrombocytopenia and Stomatocytosis in Healthy Mediterranean Subjects (Splenomegaly in Mediterranean Macrothrombocytopenia)

Abstract

Spleen size, stomatocytosis, macrothrombocytopenia, haemoglobin level, white cell count, and abdominal pain episodes were assessed in a coded study of healthy Mediterranean immigrants to Australia. Spleen size was estimated from a length measurement, L, on a standardized plain abdominal radiograph and expressed both as spleen weight and as a spleen length index, L/\lBSA; the platelet count and size parameters were determined electronically and the presence of stomatocytes was evaluated in stained blood films. In relation to 16 Northern European control women 12 of 25 Mediterranean women had radiographic splenomegaly, 10 had macrothrombocytopenia, 9 had stomatocytosis, but none had episodes of abdominal pain. The median spleen weights of the two groups were estimated as 157 and 247 g with ranges from percentile 2.3 to 97.7 of 75 to 328 and 112 to 669 g. Within the Mediterranean group splenomegaly correlated with macrothrombocytopenia (P < 0.001) but not with stomatocytosis, haemoglobin values or white cell counts. Thus, mild splenomegaly may be expected in Mediterranean macrothrombocytopenia, Mediterranean stomatocytosis appears unrelated, and all of these apparently benign anomalies may be incidental findings in patients from the Italian and Balkan peninsulas.

Macrothrombocytopenia in North India: Role of Automated Platelet Data in the Detection of an Under Diagnosed Entity

“…The exact molecular nature of this defect is still unclear although a few patients have been shown to be heterozygous carriers of the BSS [14]. Clinically, most patients are asymptomatic or have mild bleeding [15,16].…”

Inherited Macrothrombocytopenia: Correlating Morphology, Epidemiology, Molecular Pathology and Clinical Features

“…ABCG5 & 8 are genes coding proteins which apparently ejects unwanted sterols from the body, including both cholesterol itself and the plant-derived sterol molecules such as sitosterol. The condition is associated with stomatocytosis and the entity is designated as Mediterranean stomatocytosis [29] or Mediterranean macrothrombocytopenia [30]. Recently one such patient with analysis of the family members has been reported from this country.…”

Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations

“…Mediterranean stomatocytosis can exhibit macrothrombocytopenia and mild hemolysis with red cell stomatocytosis. 6 , 7 This condition is a hematologic manifestation of sitosterolemia, a rare autosomal recessive metabolic disorder characterized by the accumulation of dietary sterols. 8 , 9 Sitosterolemia is caused by mutations in ABCG5 and ABCG8 , 2 genes encoding members of the adenosine triphosphate (ATP)–binding cassette (ABC) transporter family, 10 which form a dimeric complex transporting plant xenosterols out of the cell.…”