Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
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DOI：
10.1111/j.1365-2141.2005.05599.x
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发表时间：
2005-07-01
影响因子：
6.5
通讯作者：
Stewart, GW
中科院分区：
文献类型：
--
作者：
Rees, DC;Iolascon, A;Stewart, GW
植物类固醇血症是一种隐性遗传性代谢疾病，其中胆固醇和植物来源的类胆固醇分子在肠道中的吸收是无选择性和无限制的。在血液学中，地中海口腔炎或地中海大血小板减少是一种鲜为人知的血液学疾病，它结合了口腔性溶血和非常大的血小板的存在。五个血液学家系被鉴定出来。气相色谱-质谱仪(GC-MS)显示，所有具有高度特异性的血液病患者的血液中植物类固醇水平均显著升高，诊断为植物类固醇血症。所有这些都显示了ABCG5和ABCG8的突变，这些突变以前与植物类固醇血症有关。三个家系显示出五个新的突变，而两个家系显示出ABCG8中常见的W361X突变。我们得出以下四个结论：(I)地中海口腔炎/巨血小板减少症是由血液中过量的植物类固醇引起的；(Ii)即使在胆固醇正常的情况下，对标准的他汀类药物治疗无效的植物类固醇血症也可以通过这里描述的独特的血液学来诊断；(Iii)在所有大血小板患者的鉴别诊断中应该考虑植物类固醇血症；以及(Iv)高胆固醇血症患者应该注意血小板的大小。
Phytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant-derived cholesterol-like molecules at the gut is unselective and unrestricted. In haematology, Mediterranean stomatocytosis or Mediterranean macrothrombocytopenia is a poorly understood haematological condition that combines stomatocytic haemolysis with the presence of very large platelets. Five pedigrees showing this haematology were identified. Gas chromatography mass spectrometry (GC-MS) showed that all of the patients with this highly specific haematology had grossly elevated levels of phytosterols in the blood, diagnostic of phytosterolaemia. All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. Three pedigrees showed five new mutations, while two pedigrees showed the common W361X mutation in ABCG8. We draw the following four conclusions: (i) that Mediterranean stomatocytosis/macrothrombocytopenia is caused by an excess of phytosterols in the blood; (ii) that phytosterolaemia, which does not respond to standard statin treatment, can be diagnosed via the distinctive haematology described here, even when the cholesterol is normal; (iii) that phytosterolaemia should be considered in the differential diagnosis of all patients with large platelets; and (iv) that the platelet size should be noted in patients with hypercholesterolaemia.