Congenital Hypofibrinogenemia or Afibrinogenemia? A Diagnostic Dilemma in Neonatal Period/ Konjenital Hipofibrinojenemi veya Afibrinojenemi? Yenidog an Do neminde Tanısal Bir İ kilem

Yücel M., Sürmeli Onay Ö., Özdemir Z. C., Ceylaner S., Bör Ö., Tekin A. N.

Osmangazi Tıp Dergisi, vol.43, no.3, pp.288-292, 2020 (Peer-Reviewed Journal)

  • Publication Type: Article / Case Report
  • Volume: 43 Issue: 3
  • Publication Date: 2020
  • Journal Name: Osmangazi Tıp Dergisi
  • Journal Indexes: TR DİZİN (ULAKBİM)
  • Page Numbers: pp.288-292
  • Eskisehir Osmangazi University Affiliated: Yes

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 dec-reased 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