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This condition should be distinguished from inherited disorders with Mendelian transmission and single haematopoietic lineage proliferation, named hereditary erythrocytosis and thrombocytosis. The recently discovered mutations in patients with CMD (V617F and exon 12 of <jats:italic>JAK2<\/jats:italic> gene, <jats:italic>MPL<\/jats:italic> gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. In familial CMD, the <jats:italic>JAK2<\/jats:italic> mutations are acquired and occur as secondary genetic events. As both mutations of the <jats:italic>JAK2<\/jats:italic> gene have been reported in the same pedigree, a genetic predisposition to the acquisition of the <jats:italic>JAK2<\/jats:italic> mutations is supposed to be inherited. The prevalence of familial cases within CMD is at least 7.6%. The inheritance pattern of familial CMD is consistent with an autosomal dominant trait with decreased penetrance. The clinical presentation at diagnosis of patients with familial CMD does not differ from that of patients with sporadic CMD. In addition, patients with familial CMD develop the same type of complications (thrombosis and haemorrhage) and disease evolution (post\u2010PV myelofibrosis, post\u2010ET myelofibrosis and leukaemia) observed in patients with sporadic CMD. The 10\u2010year survival is 83% for patients with familial PV, 100% for those with familial ET, and 30% for those with familial PMF. The aim of this review is to focus the state of the art of familial CMD and to offer an overview of inherited conditions causing erythrocytosis and thrombocytosis. Copyright \u00a9 2008 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/hon.863","type":"journal-article","created":{"date-parts":[[2008,5,19]],"date-time":"2008-05-19T09:47:22Z","timestamp":1211190442000},"page":"131-138","source":"Crossref","is-referenced-by-count":28,"title":["Familial chronic myeloproliferative disorders: the state of the 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