Case Report
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Congenital Hypofibrinogenemia or Afibrinogenemia?; A Diagnostic Dilemma In Neonatal Period

Year 2021, Volume: 43 Issue: 3, 288 - 292, 07.05.2021
https://doi.org/10.20515/otd.693468

Abstract

Congenital Afibrinogenemia/Hypofibrinogenemia (OMIM, 202400) (CA/CH) is one of the rare causes of hereditary hemostasis and is inherited in an autosomal-recessive. Spontaneous bleedings are not common unless the fibrinogen level is below 0.7-1 g/L. Congenital afibrinogenemia is characterized with prolonged Prothrombin Time (PT), activated Partial Thromboplastin Time (aPTT), International Normalized Ratio (INR), Thrombin Time (TT), and very low or unmeasurable fibrinogen levels. Here, we presented a newborn who was initially diagnosed as CH according to fibrinogen level but we confused with genetic examination which revealed a homozygote deletion in the whole FGA gene compatible with CA. Fibrinogen level (<35 mg/dL) of the infant decreased during follow up and the diagnosis of CA became clear. We want to take attention of clinicians to that laboratory findings may not correlate with genotype leading to a diagnostic dilemma in neonatal period,and sometimes diagnostic puzzle completes during follow up.

References

  • 1- S.S.Acharya and D. M. Dımıchele. Rare inherited disorders of fibrinogen. Haemophilia 2008; 14, 1151–1158.
  • 2- Shannon L. Meeks MD. Transfusion Medicine and Hemostasis (Second Edition), 2013; 711-715.
  • 3- Mannucci PM, Duga S, Peyvandi F. Recessively in herited coagulation disorders. Blood 2004; 104: 1243–52.
  • 4- Casini A, de Moerloose P, Neerman-Arbez M. Clinical Features and Management of Congenital Fibrinogen Deficiencies. Semin Thromb Hemost. 2016;42: 366-374.
  • 5- Asselta R, Duga S, Tenchini ML. The molecular basis of quantitati ve fibrinogen disorders. J Thromb Haemost. 2006; 4: 2115–29.
  • 6- Turkish Hematology Association National diagnosis and treatment guide 2013, Part 1 Fibrinogen (Factor 1) deficiency.
  • 7- Suzanne Shusterman, Catherine S. Manno. Blood Banking and Transfusion Medicine (Second Edition), 2007, 467-482.
  • 8- Acharya SS, Coughlin A, Dimichele DM. North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248–56.
  • 9- Giovanni Luca Tiscia, Maurizio Margaglione. Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders. Int. J. Mol. Sci. 2018 Jun: 19(6): 1597.
  • 10- Lak M, Keihani M, Elahi F et al. Bleeding and thrombosis in 55 patients with in herited afibrinogenaemia. Br J Haematol. 1999;107(1):204-206.
  • 11- de Moerloose P, Neerman-Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost. 2009, 35: 356-366.
  • 12- Akelma Z, Işık P, Yararlı N et al. Kalıtsal Pıhtılaşma Faktör Eksiklikleri: Tek Merkez Deneyimi. Turkish J Pediatr Dis / 2016; 1: 1-6.
  • 13- Fışgın T, Balkan C, Celkan T et al. Rare Coagulation Disorders: A Retrospective Analysis of 156 Patients in Turkey. Turk J Hematol 2012; 29: 48-54.
  • 14- Pati S, Kombogiorgas D, Anwar A et al. Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. Surg Neurol 2009 Jun;71(6):689-92.
  • 15- Neerman-Arbez M, Casini A. Clinical Consequences and Molecular Bases of Low Fibrinogen Levels. Int. J. Mol. Sci. 2018, 19, 192.
  • 16- Chiaki Taira, Kazuyuki Matsuda, Shinpei Arai et al. A Novel Mutation in the Fibrinogen B_ Chain (c.490G>A;d of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia. Int. J. Mol. Sci. 2017, 18, 2470.
  • 17- Arshi Naz, Arijit Biswas, Tehmina Nafees Khan et al. Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missensemutations in Pakistani population. Thromb J 2017 15:24.
  • 18- Miguel A Escobar, Harold R Roberts. Consultative Hemostasis and Thrombosis (Third Edition), 2013, 60-79.

Konjenital Hipofibrinojenemi veya Afibrinojenemi ? Yenidoğan Döneminde Tanısal Bir İkilem

Year 2021, Volume: 43 Issue: 3, 288 - 292, 07.05.2021
https://doi.org/10.20515/otd.693468

Abstract

Konjenital Afibrinojenemi / Hipofibrinojenemi (OMIM, 202400) (CA / CH), kalıtsal hemostazın nadir nedenlerinden biridir ve otozomal resesif olarak kalıtılır. Fibrinojen seviyesi 0.7-1 g / L'nin altında olmadığı sürece spontan kanamalar yaygın değildir. Konjenital afibrinojenemi, uzamış Protrombin Süresi (PT), aktive Parsiyel Tromboplastin Süresi (aPTT), Uluslararası Normalize Oranı (INR), Trombin Süresi (TT) ve çok düşük veya ölçülemeyen fibrinojen seviyeleri ile karakterizedir. Burada fibrinojen düzeyine göre başlangıçta CH tanısı konmuş ancak genetik analizi CA ile uyumlu tüm FGA geninde homozigot delesyon saptanan bir yenidoğanı sunulmuştur. İzlemde bebeğin fibrinojen düzeyi azalmış ve hatta çok düşük seyretmiştir (<35 mg / dL) ve CA tanısı izlemde netleşmiştir. Laboratuvar bulguları yenidoğan döneminde klinisyenler için yanıltıcı olabilir, sonuçlar genotip ile uyumlu olmayabilir ve tanısal ikilem yaşanabilir. Bu olgu ile izlem sırasında tanısal bulmacanın çözümlenebildiğine dikkat çekmek istiyoruz.

References

  • 1- S.S.Acharya and D. M. Dımıchele. Rare inherited disorders of fibrinogen. Haemophilia 2008; 14, 1151–1158.
  • 2- Shannon L. Meeks MD. Transfusion Medicine and Hemostasis (Second Edition), 2013; 711-715.
  • 3- Mannucci PM, Duga S, Peyvandi F. Recessively in herited coagulation disorders. Blood 2004; 104: 1243–52.
  • 4- Casini A, de Moerloose P, Neerman-Arbez M. Clinical Features and Management of Congenital Fibrinogen Deficiencies. Semin Thromb Hemost. 2016;42: 366-374.
  • 5- Asselta R, Duga S, Tenchini ML. The molecular basis of quantitati ve fibrinogen disorders. J Thromb Haemost. 2006; 4: 2115–29.
  • 6- Turkish Hematology Association National diagnosis and treatment guide 2013, Part 1 Fibrinogen (Factor 1) deficiency.
  • 7- Suzanne Shusterman, Catherine S. Manno. Blood Banking and Transfusion Medicine (Second Edition), 2007, 467-482.
  • 8- Acharya SS, Coughlin A, Dimichele DM. North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248–56.
  • 9- Giovanni Luca Tiscia, Maurizio Margaglione. Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders. Int. J. Mol. Sci. 2018 Jun: 19(6): 1597.
  • 10- Lak M, Keihani M, Elahi F et al. Bleeding and thrombosis in 55 patients with in herited afibrinogenaemia. Br J Haematol. 1999;107(1):204-206.
  • 11- de Moerloose P, Neerman-Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost. 2009, 35: 356-366.
  • 12- Akelma Z, Işık P, Yararlı N et al. Kalıtsal Pıhtılaşma Faktör Eksiklikleri: Tek Merkez Deneyimi. Turkish J Pediatr Dis / 2016; 1: 1-6.
  • 13- Fışgın T, Balkan C, Celkan T et al. Rare Coagulation Disorders: A Retrospective Analysis of 156 Patients in Turkey. Turk J Hematol 2012; 29: 48-54.
  • 14- Pati S, Kombogiorgas D, Anwar A et al. Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. Surg Neurol 2009 Jun;71(6):689-92.
  • 15- Neerman-Arbez M, Casini A. Clinical Consequences and Molecular Bases of Low Fibrinogen Levels. Int. J. Mol. Sci. 2018, 19, 192.
  • 16- Chiaki Taira, Kazuyuki Matsuda, Shinpei Arai et al. A Novel Mutation in the Fibrinogen B_ Chain (c.490G>A;d of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia. Int. J. Mol. Sci. 2017, 18, 2470.
  • 17- Arshi Naz, Arijit Biswas, Tehmina Nafees Khan et al. Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missensemutations in Pakistani population. Thromb J 2017 15:24.
  • 18- Miguel A Escobar, Harold R Roberts. Consultative Hemostasis and Thrombosis (Third Edition), 2013, 60-79.
There are 18 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section OLGU SUNUMU
Authors

Mehmet Yücel 0000-0001-9975-8361

Özge Sürmeli Onay 0000-0002-7658-3594

Zeynep Canan Özdemir 0000-0002-9172-9627

Serdar Ceylaner 0000-0003-2786-1911

Ozcan Bor 0000-0002-1662-3259

Ayşe Neslihan Tekin 0000-0002-2993-5737

Publication Date May 7, 2021
Published in Issue Year 2021 Volume: 43 Issue: 3

Cite

Vancouver Yücel M, Sürmeli Onay Ö, Özdemir ZC, Ceylaner S, Bor O, Tekin AN. Congenital Hypofibrinogenemia or Afibrinogenemia?; A Diagnostic Dilemma In Neonatal Period. Osmangazi Tıp Dergisi. 2021;43(3):288-92.


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