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Differential Diagnosis in Rare Coagulation Disorders

Year 2019, Volume: 2 Issue: 3, 126 - 129, 30.12.2019
https://doi.org/10.26650/JARHS2019-650402

Abstract

Von Willebrand Disease (1/100,000), Hemophilia A (1/10,000) and Hemophilia B (1/30,000) account for 95-98% of bleeding disorders. Examples of rare bleeding disorders are “Platelet Diseases” and “Rare Coagulation Disorders” (RCD) which generally have a frequency of occurrence of 1/1,000,000. Due to the small number of cases, information on the epidemiology and clinical outcomes of RCDs is limited. For the same reason, it has not been possible to develop guidelines for classification and treatment. Rare factor deficiencies have similarities and differences with more well-known and common haemophilia. In this article, the differences between RCDs in the light of epidemiological data are discussed while treatment is not mentioned.

References

  • 1. Peyvandi, F., I. Garagiola, and E. Biguzzi, Advances in the treatment of bleeding disorders. J Thromb Haemost, 2016. 14(11): p. 2095-2106.
  • 2. Bolton-Maggs, P.H., The rare inherited coagulation disorders. Pediatr Blood Cancer, 2013. 60 Suppl 1: p. S37-40.
  • 3. Peyvandi, F., et al., Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost, 2009. 35(4): p. 349-55.
  • 4. Menegatti, M. and R. Palla, Clinical and laboratory diagnosis of rare coagulation disorders (RCDs). Thromb Res, 2019. 5. Mannucci, P.M., S. Duga, and F. Peyvandi, Recessively inherited coagulation disorders. Blood, 2004. 104(5): p. 1243-52.
  • 6. Peyvandi, F., T. Kunicki, and D. Lillicrap, Genetic sequence analysis of inherited bleeding diseases. Blood, 2013. 122(20): p. 3423-31.
  • 7. Goodeve, A.C., et al., Genetics of haemostasis. Haemophilia, 2012. 18 Suppl 4: p. 73-80.
  • 8. Palla, R., F. Peyvandi, and A.D. Shapiro, Rare bleeding disorders: diagnosis and treatment. Blood, 2015. 125(13): p. 2052-2061.
  • 9. Mumford, A.D., et al., Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol, 2014. 167(3): p. 304-26.
  • 10. Peyvandi, F., M. Menegatti, and R. Palla, Rare bleeding disorders: worldwide efforts for classification, diagnosis, and management. Semin Thromb Hemost, 2013. 39(6): p. 579-84.
  • 11. Türk Hematoloji Derneği, Nadir faktör eksiklikleri, Tanı ve tedavi klavuzu. Eylül 2013.

Nadir Faktör Eksikliklerinde Ayırıcı Tanı

Year 2019, Volume: 2 Issue: 3, 126 - 129, 30.12.2019
https://doi.org/10.26650/JARHS2019-650402

Abstract

Tüm kanama bozukluklarının %95-98’ini Von Willebrand Hastalığı (1/100.000), hemofili A (1/10000) ve hemofili B (1/30000) oluşturmakta, nadir rastlanan kanama bozuklukları ise trombosit hastalıkları ve “nadir faktör eksiklikleri (NFE)” olup, genel olarak 1/1.000.000 sıklıkta rastlanır. Vaka sayılarının azlığı nedeniyle NFE’nin epidemiyolojisi ve klinik sonuçları hakkındaki bilgiler sınırlıdır. Ayrıca yine aynı nedenle sınıflandırılması ve tedavisi için rehberler de geliştirilememiştir. Nadir faktör eksikliklerinin iyi bilinen ve sık görülen hemofililerle benzerlik ve farklılıkları mevcuttur. Bu yazıda epidemiyolojik veriler ışığında NFE’nin farklılıkları üzerinde durulmuş, tedaviye değinilmemiştir.

References

  • 1. Peyvandi, F., I. Garagiola, and E. Biguzzi, Advances in the treatment of bleeding disorders. J Thromb Haemost, 2016. 14(11): p. 2095-2106.
  • 2. Bolton-Maggs, P.H., The rare inherited coagulation disorders. Pediatr Blood Cancer, 2013. 60 Suppl 1: p. S37-40.
  • 3. Peyvandi, F., et al., Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost, 2009. 35(4): p. 349-55.
  • 4. Menegatti, M. and R. Palla, Clinical and laboratory diagnosis of rare coagulation disorders (RCDs). Thromb Res, 2019. 5. Mannucci, P.M., S. Duga, and F. Peyvandi, Recessively inherited coagulation disorders. Blood, 2004. 104(5): p. 1243-52.
  • 6. Peyvandi, F., T. Kunicki, and D. Lillicrap, Genetic sequence analysis of inherited bleeding diseases. Blood, 2013. 122(20): p. 3423-31.
  • 7. Goodeve, A.C., et al., Genetics of haemostasis. Haemophilia, 2012. 18 Suppl 4: p. 73-80.
  • 8. Palla, R., F. Peyvandi, and A.D. Shapiro, Rare bleeding disorders: diagnosis and treatment. Blood, 2015. 125(13): p. 2052-2061.
  • 9. Mumford, A.D., et al., Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol, 2014. 167(3): p. 304-26.
  • 10. Peyvandi, F., M. Menegatti, and R. Palla, Rare bleeding disorders: worldwide efforts for classification, diagnosis, and management. Semin Thromb Hemost, 2013. 39(6): p. 579-84.
  • 11. Türk Hematoloji Derneği, Nadir faktör eksiklikleri, Tanı ve tedavi klavuzu. Eylül 2013.
There are 10 citations in total.

Details

Primary Language Turkish
Subjects Clinical Sciences
Journal Section Review
Authors

Mustafa Bilici 0000-0002-2393-1532

Serap Karaman This is me 0000-0002-7428-3897

Publication Date December 30, 2019
Submission Date October 25, 2019
Published in Issue Year 2019 Volume: 2 Issue: 3

Cite

MLA Bilici, Mustafa and Serap Karaman. “Nadir Faktör Eksikliklerinde Ayırıcı Tanı”. Sağlık Bilimlerinde İleri Araştırmalar Dergisi, vol. 2, no. 3, 2019, pp. 126-9, doi:10.26650/JARHS2019-650402.