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Familial myeloproliferative syndrome
Author(s) -
PérezEncinas M.,
Bello J. L.,
PérezCrespo S.,
De Miguel R.,
Tome S.
Publication year - 1994
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830460312
Subject(s) - thrombocytosis , medicine , etiology , essential thrombocythemia , polycythemia vera , pediatrics , myeloproliferative disorders , daughter , pathogenesis , pathology , dermatology , platelet , evolutionary biology , biology
Familial chronic myeloproliferative syndrome (CMS) was observed in five members from two different generations of the same kindred. Diagnoses included agnogenic myeloid metaplasia (case 1), polycythemia vera (case 2), and essential thrombocythemia (cases 3–5). Cases 1–3 were siblings, case 5 was the daughter of case 1, and case 4 was the cousin of cases 1, 3. Age at diagnosis ranged from 28 to 75 years, cases 1 and 3 were male, and the others were female. The diagnosis was made after an episode of cerebral thrombosis in one patient, during a study for headache and dizziness in another, and fortuituously in the three remainders. All patients had splenomegaly and varying degrees of thrombocytosis. The cytogenetic exam was normal in all four cases. A woman patient was treated with interferon during a pregnancy. Fetal growth was retarded, and the newborn showed bone and genital malformations. No environmental leukemogen factor was found. This familial case strengthens Dameshek's theory of a common pathogenesis of CMS and suggests a genetic and hereditary etiology. © 1994 Wiley‐Liss, Inc.