Essential thrombocythemia

Orphanet J Rare Dis. 2007 Jan 8:2:3. doi: 10.1186/1750-1172-2-3.

Abstract

Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. The prevalence in the general population is approximately 30/100,000. The median age at diagnosis is 65 to 70 years, but the disease may occur at any age. The female to male ratio is about 2:1. The clinical picture is dominated by a predisposition to vascular occlusive events (involving the cerebrovascular, coronary and peripheral circulation) and hemorrhages. Some patients with ET are asymptomatic, others may experience vasomotor (headaches, visual disturbances, lightheadedness, atypical chest pain, distal paresthesias, erythromelalgia), thrombotic, or hemorrhagic disturbances. Arterial and venous thromboses, as well as platelet-mediated transient occlusions of the microcirculation and bleeding, represent the main risks for ET patients. Thromboses of large arteries represent a major cause of mortality associated with ET or can induce severe neurological, cardiac or peripheral artery manifestations. Acute leukemia or myelodysplasia represent only rare and frequently later-onset events. The molecular pathogenesis of ET, which leads to the overproduction of mature blood cells, is similar to that found in other clonal MPDs such as chronic myeloid leukemia, polycythemia vera and myelofibrosis with myeloid metaplasia of the spleen. Polycythemia vera, myelofibrosis with myeloid metaplasia of the spleen and ET are generally associated under the common denomination of Philadelphia (Ph)-negative MPDs. Despite the recent identification of the JAK2 V617F mutation in a subset of patients with Ph-negative MPDs, the detailed pathogenetic mechanism is still a matter of discussion. Therapeutic interventions in ET are limited to decisions concerning the introduction of anti-aggregation therapy and/or starting platelet cytoreduction. The therapeutic value of hydroxycarbamide and aspirin in high risk patients has been supported by controlled studies. Avoiding thromboreduction or opting for anagrelide to postpone the long-term side effects of hydrocarbamide in young or low risk patients represent alternative options. Life expectancy is almost normal and similar to that of a healthy population matched by age and sex.

Publication types

  • Review

MeSH terms

  • Adult
  • Age Distribution
  • Aged
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Hematologic Agents / therapeutic use
  • Humans
  • Incidence
  • Janus Kinase 2 / genetics
  • Male
  • Middle Aged
  • Mutation
  • Practice Guidelines as Topic
  • Pregnancy
  • Pregnancy Complications, Hematologic / diagnosis
  • Pregnancy Complications, Hematologic / therapy
  • Prevalence
  • Prognosis
  • Risk Assessment / methods
  • Sex Distribution
  • Sweden / epidemiology
  • Thrombocythemia, Essential / diagnosis*
  • Thrombocythemia, Essential / epidemiology
  • Thrombocythemia, Essential / genetics
  • Thrombocythemia, Essential / therapy*
  • Thrombocytosis / diagnosis

Substances

  • Hematologic Agents
  • JAK2 protein, human
  • Janus Kinase 2