A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)
Abstract
ABSTRACT
Congenital
factor XIII deficiency is an autosomal recessive inheritance bleeding disorder.
Usually, the cause of this disease is deficiency of factor XIII subunit A protein in
plasma. Some symptoms of the disease support
that the clinical suspicions related to FXIII deficiency. For example; prolonged
umbilical cord bleeding which is started in the newborn period. Diagnose of Factor XIII deficiency is difficult, on
the other hand it has important therapeutic implications. When cryoprecipitate
or plasma-derived factor XIII concentrate is used prophylactically, the prognosis
of the disease will be good. We report here a case related to factor XIII
deficiency with presented a massive umbilical cord bleeding as the first
manifestation of factor XIII deficiency. The patient was managed
successfully with cryoprecipitate, fresh frozen plasma transfusion and
supportive treatments.
References
- 1. Killick CJ, Barton CJ, Aslam S, Standen G. Prenatal diagnosis in factor XIII-A deficiency. Arch Dis Child Fetal Neonatal Ed 1999;80: F238-9.
- 2. Von der Weid N, Furlan M, Siegenthaler I, Lämmle B. An infant with umbilical cord and intracranial hemorrhage--severe factor XIII deficiency. Ther Umsch 1999; 56: 544-6.
- 3. Odame JE, Chan AK, Wu JK, Breakey VR. Factor XIII deficiency management: a review of the literature. Blood Coagul Fibrinolysis 2014;25:199-205.
- 4. Sawlani KK, Chaudhary SC, Roy A, Tripathi AK. Factor XIII Deficiency Presenting With Intracerebral Bleed. BMJ Case Rep 2013;2013.
- 5. Hsieh L, Nugent D. Factor XIII Deficiency. Haemophilia 2008;14: 1190-200.
- 6. Öcek Ö, Bilgin RR, Bilgir O, Gedizlioğlu M. Recurrent Spontaneous Intracerebral Haemorrhage Due To Factor XIII Deficiency. Turkish Journal Of Cerebrovascular Diseases 2014; 20: 24-27.
- 7. Cushing MM, Fitzgerald MM, Harris RM, Asmis LM, Haas T. Influence of cryoprecipitate, Factor XIII, and fibrinogen concentrate on hyperfibrinolysis. Transfusion 2017;57: 2502-2510.
- 8. Karimi M, Peyvandi F, Naderi M, Shapiro A. Factor XIII deficiency diagnosis: Challenges and tools. Int J Lab Hematol 2018;40: 3-11.
Masif Umbilikal Kanama ile Başvuran Daha Önce Tanımlanmamış Faktör XIII Subünit A Mutasyonlu Bir Olgu (Factor XIII A1 gen; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)
Abstract
Konjenital
faktör XIII eksikliği kalıtsal bir kanama bozukluğudur ve otozomal resesif
geçişlidir. Hastalığın nedeni genellikle plazmada faktör XIII subünit A
proteinin eksikliğidir. Bazı belirtiler FXIII eksikliği ile ilgili klinik
şüpheleri desteklemektedir. Örneğin; yenidoğan döneminde başlayan uzamış göbek
kordonu kanaması. Faktör XIII eksikliğinin teşhisi zordur, ancak önemli
terapötik etkileri vardır. Kriyopresipitat veya plazmadan türetilen FXIII
konsantresi profilaktik olarak kullanıldığında hastalığın prognozu iyi
seyretmektedir. Burada FXIII eksikliği olan bir olgu ile birlikte faktör XIII
eksikliğinin ilk belirtisi olarak masif umbilikal kord kanaması sunulmaktadır.
Hastamız kriyopresipitat, taze donmuş plazma transfüzyonu ve destek tedavisi
ile başarılı bir şekilde tedavi edildi.
References
- 1. Killick CJ, Barton CJ, Aslam S, Standen G. Prenatal diagnosis in factor XIII-A deficiency. Arch Dis Child Fetal Neonatal Ed 1999;80: F238-9.
- 2. Von der Weid N, Furlan M, Siegenthaler I, Lämmle B. An infant with umbilical cord and intracranial hemorrhage--severe factor XIII deficiency. Ther Umsch 1999; 56: 544-6.
- 3. Odame JE, Chan AK, Wu JK, Breakey VR. Factor XIII deficiency management: a review of the literature. Blood Coagul Fibrinolysis 2014;25:199-205.
- 4. Sawlani KK, Chaudhary SC, Roy A, Tripathi AK. Factor XIII Deficiency Presenting With Intracerebral Bleed. BMJ Case Rep 2013;2013.
- 5. Hsieh L, Nugent D. Factor XIII Deficiency. Haemophilia 2008;14: 1190-200.
- 6. Öcek Ö, Bilgin RR, Bilgir O, Gedizlioğlu M. Recurrent Spontaneous Intracerebral Haemorrhage Due To Factor XIII Deficiency. Turkish Journal Of Cerebrovascular Diseases 2014; 20: 24-27.
- 7. Cushing MM, Fitzgerald MM, Harris RM, Asmis LM, Haas T. Influence of cryoprecipitate, Factor XIII, and fibrinogen concentrate on hyperfibrinolysis. Transfusion 2017;57: 2502-2510.
- 8. Karimi M, Peyvandi F, Naderi M, Shapiro A. Factor XIII deficiency diagnosis: Challenges and tools. Int J Lab Hematol 2018;40: 3-11.
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Olgu Sunumları |
| Authors | |
| Publication Date | July 15, 2019 |
| Submission Date | October 5, 2018 |
| Acceptance Date | November 26, 2018 |
| Published in Issue | Year 2019 Volume: 14 Issue: 2 |