Congenital factor XIII deficiency: Case report

Year 2006, Volume: 37 Issue: 3, 77 - 79, 01.04.2006

Reşit Köken Ayşegül Bükülmez Hamide Melek Tevfik Demir Ülker Yiğit

Abstract

Congenital factor XIII deficiency is a rare hereditary bleeding disorder. Standart coagulation studies are generally normal in these patients. Umbilical cord bleeding is the most common presenting manifestation of factor XIII deficiency, occuring in more than 80 % of the patients. This patient presented on the 7th postnatal day with excessive umbilical bleeding. The platelet count, bleeding time, prothrombin time (PT) and partial thromboplastin time (PTT) tests were normal. Red blood cell and fresh frozen plasma were transfused to the patient. Prior to the transfusion, FXIII deficiency was diagnosed with 5 M urea testing of blood samples. FXIII deficiency should be kept in mind in patients with abnormal bleeding patterns, even in the presence of normal standart coagulation tests.

Keywords

Hemophilia A, Infant, Newborn, Diseases, Infant, Newborn, Female, Hemorrhage

Konjenital faktör XIII eksikliği

Abstract

Konjenital Faktör XIH(FXIII) eksikliği nadir görülen kalıtsal kanama bozukluklarındandır. FXIII eksikliği olan hastalarda standart coagulation testleri normal olarak bulunur. FXIII eksikliği olan vakaların % 80'ninden fazlasında umbilikal kanama görülür. Doğumundan 7 gün sonra göbeğinin düşmesiyle aşırı kanaması olan hastada trombosit sayısı, kanama zamanı, protrombin zamanı (PT) ve parsiyel tromboplastin zamanı normal bulundu. Aşırı kanama nedeniyle hastaya eritrosit süsponsiyonu, taze donmuş plazma verildi. Hastaya transfüzyon yapılmadan önce alınan kanda bakılan 5 M üre testi ile FXIII eksikliği konuldu. Sonuç olarak standart koagulasyon tetkikleri normal bulunan kanamalı hastalarda FXIII eksikliği düşünülmelidir.

Keywords

Hemofili A, Süt çocuğu, yenidoğan, hastalıklar, Süt çocuğu, yenidoğan, Kadın, Kanama

References

• Ichinose A. Physiopathology and regulation of factor XIII. Thromb Haemost 2001; 86:57- 65
• Birben E, Oner R, Oner C, Gumruk F, Altay C, GurgeyA. Mutations in coagulation factor XIIIA gene in three Turkish patients: two novel mutations and a known insertion. Br J Haematol 2002; 118:278-81
• Anwar R, MinfordA, Gallivan L, Trinh CH, Markham AF. Delayed umbilical bleedinga presenting feature for factor XIII deficiency: clinical features, genetics, and management
• Pediatrics 2002;109:E32
• Anwar R, Miloszewski KJ. Factor XIII deficiency. Br J Haematol 1999;107:468-84
• Nugent DJ. Prophylaxis in rare coagulation disorders--factor XIII deficiency. Thromb Res 2006,-118 Suppll:S23-8
• Dardik R, Loscalzo J, Inbal A. Factor XIII (FXIII) and angiogenesis. J Thromb Haemost 2006;4:19-25
• Küçükkaya R, Hacıhanefioğlu A, Turgut M, Nalçacı M. Konjenital Faktör XIII Eksikliği: Bir Olgunun Sunumu. İst. Tıp Fak. Mecmuası 1999,-64:427-30
• Almeida A, Khair K, Hann I, Liesner R
• Unusual presentation of factor XIII deficiency
• Haemophilia 2002;8:703-5
• Duckert F, Jung E, Shmerling DH. A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thromb Diath Haemorrh 1960 ;5:179-86
• Gerlach R, Raabe A, Zimmermann M, Siegemund A, Seifeft V. Factor XIII deficiency and postoperative hemorrhage after neurosurgical procedures. Surg Neurol 2000;54:260-4; discussion 264-5
• Bezirgan U, Barias M, Yağmurlu A, Azık F. Faktör XIII Eksikliği. Ankara Ünivesitesi Tıp fakültesi Mecmuası 2004;57:53-6
• Loewy AG , McDonagh J , Mikkola H, Teller CD, Yee VC. Structure and functionof factor XIII. In: Colman RW, Hirsh J, Marder VJ, Clowes AW, George JN, eds. Hemostasis and thrombosis: Basic principles and clinical practice. Philadelphia: Lippincott Williams & Wilkins, 2001:233-47
• Maruki C, Nakajima M, Tsunoda A, Ebato M, Ikeya F. A case of giant expanding cephalhematoma: does the administration of blood coagulation factor XIII reverse symptoms? Surg Neurol 2003;60:138-41 ; discussion 141
• Newman RS, Jalili M, Rolls BJ, Dietrich R. Factor XIII deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value. Am J Hematol 2002 ;71 .-328-30.