Essenzielle Thrombozythämie
Zuletzt bearbeitet: Zuletzt revidiert:
Zuletzt revidiert von:Dietrich August
Definition:
Myeloproliferative Neoplasie mit dauerhaft erhöhter Thrombozytenzahl im Blut durch eine monoklonale autonome Vermehrung der myeloischen Stammzelle.
Häufigkeit:
1–2,5/100.000/Jahr, Altersgipfel 50–70 Jahre.
Symptome:
Häufig asymptomatisch. Mirkozirkulationsstörungen mit Kopfschmerzen, Sehstörungen und Erythromelalgie (schmerzhafte Rötung von Händen und Füßen), venöse und arterielle thrombotische Ereignisse, Blutungsneigung.
Befunde:
Oft blande; gelegentlich Hepatosplenomegalie, Erythromelalgie, Thrombosezeichen.
Diagnostik:
Zunächst Ausschluss einer sekundären Thrombozythämie durch Anamnese, Labor- und apparative Diagnostik. Beweisend sind Gendiagnostik und Knochenmarkshistologie.
Therapie:
Keine kausale Therapie möglich. Reduktion von thrombotischen Komplikationen durch Thrombozytenaggregationshemmung mit ASS und zytoreduktive Therapie mit Hydroxyurea.
- Deutsche Gesellschaft für Hämatologie und Medizinische Onkologie (DGHO). Essentielle (oder primäre) Thrombozythämie (ET). Onkopedia Leitlinie, Stand: Dezember 2018. www.onkopedia.com
- Deutsche Gesellschaft für Hämatologie und Medizinische Onkologie (DGHO). Myeloproliferative Neoplasien (MPN). Onkopedia Leitlinie, Stand: Juli 2018. www.onkopedia.com
- Mesa RA, Silverstein MN, Jacobsen SJ, Wollan PC, Tefferi A. Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted County Study, 1976-1995. Am J Hematol 1999;61:10-15. PubMed
- Schafer AI. Thrombocytosis and thrombocythemia. Blood Rev 2001;15:159-166. PubMed
- Tefferi A. Myeloproliferative neoplasms: A decade of discoveries and treatment advances. Am J Hematol. 2016 Jan;91(1):50-8. PubMed PMID: 26492355. PubMed
- Tefferi A, Vannucchi AM, Barbui T. Essential thrombocythemia treatment algorithm 2018. Blood Cancer J. 2018 Jan 10;8(1):2. PubMed PMID: 29321520. PubMed
- Harrison CN, Bareford D, Butt N, et al; British Committee for Standards in Haematology. Guideline for investigation and management of adults and children presenting with a thrombocytosis. Br J Haematol. 2010;149:352-375. PubMed
- Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016 May 19; 127(20): 2391-405. PubMed
- Barbui T, Thiele J, et al. The 2016 revision of WHO classification of myeloproliferative neoplasms: Clinical and molecular advances. Blood Rev. 2016 Nov;30(6):453-459. PubMed PMID: 27341755. PubMed
- Griesshammer M, Bangerter M, Sauer T, Wennauer R, Bergmann L, Heimpel H. Aetiology and clinical significance of thrombocytosis: analysis of 732 patients with an elevated platelet count. J Intern Med 1999;245:295-300. PubMed
- Schafer AI. Thrombocytosis. N Engl J Med 2004; 350: 1211-9. PubMed
- Orphan.net, Das Portal für seltene Krankheiten und Orphan Drugs. Familiäre Thrombozytose. www.orpha.net
- Rumi E, Cazzola M. How I treat essential thrombocythemia. Blood. 2016 Nov 17;128(20):2403-2414. PubMed PMID: 27561316. PubMed
- Kesler A, Ellis MH, Manor Y, Gadoth N, Lishner M. Neurological complications of essential thrombocytosis (ET). Acta Neurol Scand 2000;102:299-302. PubMed
- Wright CA, Tefferi A. A single institutional experience with 43 pregnancies in essential thrombocythemia. Eur J Haematol 2001;66:152-159. PubMed
- Buss DH, Cashell AW, et al. Occurrence, etiology, and clinical significance of extreme thrombocytosis: a study of 280 cases. Am J Med. 1994 Mar;96(3):247-53. PubMed PMID: 8154513. PubMed
- Finazzi G, Ruggeri M, Rodeghiero F, Barbui T. Second malignancies in patients with essential thrombocythaemia treated with busulphan and hydroxyurea: long-term follow-up of a randomized clinical trial. Br J Haematol 2000;110:577-583. PubMed
- Alvarez-Larrán A, Cervantes F, et al. Observation versus antiplatelet therapy as primary prophylaxis for thrombosis in low-risk essential thrombocythemia. Blood. 2010 Aug 26;116(8):1205-10; quiz 1387. PubMed PMID: 20508163. PubMed
- Squizzato A, Romualdi E, et al. Antiplatelet drugs for polycythaemia vera and essential thrombocythaemia. Cochrane Database Syst Rev. 2013 Apr 30;(4):CD006503. doi:10.1002/14651858.CD006503.pub3. Review. PubMedPMID: 23633335. PubMed
- Cortelazzo S, Finazzi G, et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. N Engl J Med. 1995 Apr 27;332(17):1132-6. PubMed PMID: 7700286. PubMed
- Harrison CN, Campbell PJ, et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med.2005 Jul 7;353(1):33-45. PubMed PMID: 16000354. PubMed
- Gisslinger H, Gotic M, et al. Anagrelide compared with hydroxyurea in WHO-classified essential thrombocythemia: the ANAHYDRET Study, a randomized controlled trial. Blood. 2013 Mar 7;121(10):1720-8. PubMed PMID: 23315161. PubMed
- Storen EC, Tefferi A. Long-term use of anagrelide in young patients with essential thrombocythemia. Blood 2001;97:863-866. PubMed
- Cerquozzi S, Tefferi A. Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors. Blood Cancer J. 2015 Nov 13;5:e366. doi: 10.1038/bcj.2015.95. PubMed PMID: 26565403. PubMed
- Carobbio A, Thiele J, Passamonti F, et al. Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients. Blood 2011.
- Barbui T, Finazzi G, et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis). Blood. 2012 Dec 20;120(26):5128-33; quiz 5252. doi: 10.1182/blood-2012-07-444067. PubMed PMID: 23033268. PubMed
- Tefferi A, Guglielmelli P, et al. Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. Blood. 2014 Oct 16;124(16):2507-13; quiz 2615. PubMed PMID: 25037629. PubMed
- Passamonti F, Rumi E, et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med. 2004 Nov 15;117(10):755-61. PubMed PMID: 15541325. PubMed
- Bazzan M, Tamponi G, Schinco P, et al. Thrombosis-free survival and life expectancy in 187 consecutive patients with essential thrombocythemia. Ann Hematol 1999;78:539-543. PubMed
- Dietrich August, Dr. med., Arzt, Freiburg im Breisgau