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Kalıtsal Pıhtılaşma Faktör Eksiklikleri: Tek Merkez Deneyimi

Yıl 2016, Cilt: 10 Sayı: 1, 1 - 6, 01.04.2016

Öz

Amaç: Bu retrospektif çalışmada, hemofili, von Willebrand hastalığı (VWH) ve nadir faktör eksikliği tanısı ile izlenen hastalar klinik ve demografik özellikleri ve takiplerinde ortaya çıkan komplikasyonlar açısından değerlendirilmiştir.Gereç ve Yöntemler: Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi Çocuk Hematoloji Kliniği’nde çeşitli pıhtılaşma faktörlerinin kalıtsal eksiklikleri tanısı ile izlenen, yaşları 0-14 yıl arasında değişen toplam 105 hasta retrospektif olarak incelenmiştir.Bulgular: Hastaların %46.7’si hemofili A, %16.2’si vWH, %8.6’sı hemofili B tanısı almıştır. Nadir faktör eksikliklerinin sıklığı ise %28.5 olarak saptanmıştır. Bunlar içinde en sık fibrinojen eksikliği (%10.5) ve faktör VII (FVII) eksikliği (%7.6) görülmüştür. Diğer nadir görülen faktör eksiklikleri sırasıyla FXI eksikliği %3.8, FV eksikliği %2.9, FX eksikliği %1.9, FII eksikliği %1 şeklindedir. Hemofili A hastaları en sık hemartroz, von Willebrand faktör (vwF) eksikliği saptanan hastalar ise en sık burun kanaması yakınması ile başvurmuşlardır. On sekiz hasta (%17) herhangi bir yakınma olmaksızın başka bir nedenle tetkik edilirken tanı almıştır. Takipte saptanan komplikasyonlar açısından değerlendiğinde hemofili A hastalarında %12.2 inhibitör gelişimi saptanmıştır. Hepatit B ve hepatit C sıklığı %0.9 olarak bulunmuştur.Sonuç: Kanama bozuklukları hematolojik hastalıklar içinde oldukça geniş bir yer tutması yanında çocuk hastalıkları içinde de sık görülen başvuru nedenlerindendir. Bazı çocuklarda belirgin bulgularla seyretmesine rağmen, bazı olgularda görülen hafif yakınmalar tanının gözden kaçmasına neden olabilmektedir. Semptomatik hastalarda erken tanı ve tedavi önem arz ederken, hafif seyirli veya kanama yakınması olmayıp, anormal laboratuvar sonuçları saptanan olgularda da kalıtsal bir kanama bozukluğu olabileceği akılda tutulmalı ve ileri tetkikler planlanmalıdır.

Kaynakça

  • Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004;104:1243-52.
  • Singleton T, Kruse-Jarres R, Leissinger C. Emergency department care for patients with Hemophilia and von Willebrand Disease. J Emerg Med 2010;39:158-65.
  • Peyvandi F, Cattaneo M, Inbal A, De Moerloose P, Spreafi co M. Rare bleeding disorders. Haemophilia 2008;14:202-10.
  • Koc I. Prevalence and sociodemographic correlates of consanguineous marriages in Turkey. J Biosoc Sci 2008;40:137- 48.
  • Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: Results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10:615-21.
  • Peyvandi F, Bolton- Maggs PHB, Batorova A. Rare bleeding disorders. Haemophilia 2012,18:148-53.
  • Montgomery RR, Gill JC, Paola JD. Hemophilia and von Willebrand disease. In: Orkin SH, Nathan DG, Ginsburg D, Look AT (eds). Nathan and Oski’s Hematology of Infancy and Childhood. 7th ed. Philadelphia: Sounders Elsevier; 2009:1487-525
  • Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL, et al. von Willebrand disease (VWD): Evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008;14:171-232.
  • James P, Salomon O, Mikovic D, Peyvandi F. Rare bleeding disorders - bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI defi ciency. Haemophilia 2014:20:71- 5.
  • Peyvandi F, Duga S, Akhavan S, Mannucci PM. Rare coagulation defi ciencies. Haemophilia 2002;8:308-21.
  • El-Bostany EA, Omer N, Salama EE, El-Ghoroury EA, Al-Jaouni SK. The spectrum of inherited bleeding disorders in pediatrics. Blood Coagul Fibrinolysis 2008;19:771-5.
  • Karimi M, Haghpanah S, Amirhakimi A, Afrasiabi A, Dehbozorgian J, Nasirabady S. Spectrum of inherited bleeding disorders in southern Iran, before and after the establishment of comprehensive coagulation laboratory. Blood Coagul Fibrinolysis 2009;20:642-5.
  • Kavaklı K, Aktuğlu G, Kemahlı S, Bafi lar Z, Ertem M, Balkan C. et al. Inhibitor screening for patients with hemophilia in Turkey. Turk J Hematol 2006;23:25-32.
  • Yazdani MR, Kassaian N, Ataei B, Nokhodian Z, Adibi P. Hepatitis C virus infection in patients with hemophilia in Isfahan, Iran. Int J Prev Med 2012;3:89-93.
  • Sharifi -Mood B, Eshghi P, Sanei-Moghaddam E, Hashemi M. Hepatitis B and C virus infections in patients with hemophilia in Zahedan, southeast Iran. Saudi Med J 2007;28:1516-9.
  • Goedert JJ. Prevalence of conditions associated with human immunodefi ciency and hepatitis virus infections among persons with haemophilia, 2001-2003. Haemophilia 2005;11:516-28.
  • Kocabaş E, Aksaray N, Alhan E, Yarkin F, Köksal F, Kilinç Y. Hepatitis B and C virus infections in Turkish children with haemophilia. Acta Paediatr 1997;86:1135-7.
  • Ragni MV, Sherman KE, Jordan JA. Viral pathogens. Haemophilia 2010;16:40-6. 2014;20:76-9.

Hereditary Coagulation Factor Defi ciencies: Single Center Experience

Yıl 2016, Cilt: 10 Sayı: 1, 1 - 6, 01.04.2016

Öz

Objective: The aim of this retrospective study was to evaluate the clinical spectrum, demographic features and complications in patients with a hereditary coagulation disorder.Material and Methods: A total of 105 patients who were being followed-up with a diagnosis of hereditary coagulation factor defi ciency at the Pediatric Hematology Clinic of Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital were evaluated retrospectively in this study.Results: The most frequently observed disorders were hemophilia A (46.7%), von Willebrand Disease (vWD) (16.2%) and hemophilia B (8.6%). Rare bleeding disorders (RBD) were detected in 28.5% of the study group and the most common RBDs were fi brinogen (10.5%) and factor VII (7.6%) defi ciencies followed by FXI, FV and FX at 3.8%, 2.9% and 1.9%, respectively. The common initial symptom was hemarthrosis in hemophilia A and epistaxis in vWD. Eighteen patients (17%) were asymptomatic. The frequency of inhibitor development in hemophilia was 12.2%. The prevalence of hepatitis B and hepatitis C among all patients was 0.9%. Conclusion: Bleeding disorders are widely encountered in both hematology and pediatric clinics. Most patients with coagulation disorders present with bleeding symptoms but some patients may be asymptomatic or have minor symptoms that lead to a delay in diagnosis. Prompt diagnosis and treatment are critical in symptomatic patients. One has to keep in mind that not all factor defi ciencies lead to severe bleeding and patients with abnormal laboratory results also need to be investigated for familial coagulation disorders too

Kaynakça

  • Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004;104:1243-52.
  • Singleton T, Kruse-Jarres R, Leissinger C. Emergency department care for patients with Hemophilia and von Willebrand Disease. J Emerg Med 2010;39:158-65.
  • Peyvandi F, Cattaneo M, Inbal A, De Moerloose P, Spreafi co M. Rare bleeding disorders. Haemophilia 2008;14:202-10.
  • Koc I. Prevalence and sociodemographic correlates of consanguineous marriages in Turkey. J Biosoc Sci 2008;40:137- 48.
  • Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: Results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10:615-21.
  • Peyvandi F, Bolton- Maggs PHB, Batorova A. Rare bleeding disorders. Haemophilia 2012,18:148-53.
  • Montgomery RR, Gill JC, Paola JD. Hemophilia and von Willebrand disease. In: Orkin SH, Nathan DG, Ginsburg D, Look AT (eds). Nathan and Oski’s Hematology of Infancy and Childhood. 7th ed. Philadelphia: Sounders Elsevier; 2009:1487-525
  • Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL, et al. von Willebrand disease (VWD): Evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008;14:171-232.
  • James P, Salomon O, Mikovic D, Peyvandi F. Rare bleeding disorders - bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI defi ciency. Haemophilia 2014:20:71- 5.
  • Peyvandi F, Duga S, Akhavan S, Mannucci PM. Rare coagulation defi ciencies. Haemophilia 2002;8:308-21.
  • El-Bostany EA, Omer N, Salama EE, El-Ghoroury EA, Al-Jaouni SK. The spectrum of inherited bleeding disorders in pediatrics. Blood Coagul Fibrinolysis 2008;19:771-5.
  • Karimi M, Haghpanah S, Amirhakimi A, Afrasiabi A, Dehbozorgian J, Nasirabady S. Spectrum of inherited bleeding disorders in southern Iran, before and after the establishment of comprehensive coagulation laboratory. Blood Coagul Fibrinolysis 2009;20:642-5.
  • Kavaklı K, Aktuğlu G, Kemahlı S, Bafi lar Z, Ertem M, Balkan C. et al. Inhibitor screening for patients with hemophilia in Turkey. Turk J Hematol 2006;23:25-32.
  • Yazdani MR, Kassaian N, Ataei B, Nokhodian Z, Adibi P. Hepatitis C virus infection in patients with hemophilia in Isfahan, Iran. Int J Prev Med 2012;3:89-93.
  • Sharifi -Mood B, Eshghi P, Sanei-Moghaddam E, Hashemi M. Hepatitis B and C virus infections in patients with hemophilia in Zahedan, southeast Iran. Saudi Med J 2007;28:1516-9.
  • Goedert JJ. Prevalence of conditions associated with human immunodefi ciency and hepatitis virus infections among persons with haemophilia, 2001-2003. Haemophilia 2005;11:516-28.
  • Kocabaş E, Aksaray N, Alhan E, Yarkin F, Köksal F, Kilinç Y. Hepatitis B and C virus infections in Turkish children with haemophilia. Acta Paediatr 1997;86:1135-7.
  • Ragni MV, Sherman KE, Jordan JA. Viral pathogens. Haemophilia 2010;16:40-6. 2014;20:76-9.
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Diğer ID JA26NF27UH
Bölüm Research Article
Yazarlar

Zülfikar Akelma Bu kişi benim

Pamir Işık Bu kişi benim

Neşe Yaralı Bu kişi benim

Abdurrahman Kara Bu kişi benim

Bahattin Tunç Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2016
Gönderilme Tarihi 1 Nisan 2016
Yayımlandığı Sayı Yıl 2016 Cilt: 10 Sayı: 1

Kaynak Göster

Vancouver Akelma Z, Işık P, Yaralı N, Kara A, Tunç B. Hereditary Coagulation Factor Defi ciencies: Single Center Experience. Türkiye Çocuk Hast Derg. 2016;10(1):1-6.

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