Familial myeloproliferative syndrome

Am J Hematol. 1994 Jul;46(3):225-9. doi: 10.1002/ajh.2830460312.

Abstract

Familial chronic myeloproliferative syndrome (CMS) was observed in five members from two different generations of the same kindred. Diagnosis 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 fortuitously 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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Chronic Disease
  • Family Health
  • Female
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / complications
  • Male
  • Middle Aged
  • Myeloproliferative Disorders / genetics*
  • Pedigree
  • Polycythemia Vera / complications
  • Primary Myelofibrosis / complications
  • Syndrome
  • Thrombocytosis / complications