Congenital fibrinogen deficiency in Hemophilia Center Medical City/Baghdad

Abstract

CONTEXT: Congenital fibrinogen deficiency is a rare inherited coagulation disorder with an estimated prevalence of 1:1,000,000 which is characterized by bleeding that varies from mild to severe and by an extremely low level or complete absence of plasma and platelet fibrinogen. AIMS: This study aims to assess prevalence, demographic parameters, clinical presentation, and hemostatic values in patients diagnosed with congenital fibrinogen deficiency. SETTINGS AND DESIGN: A retrospective descriptive study of patients diagnosed with congenital fibrinogen deficiency in Hemophilia Center/Medical City/Baghdad over a period of 7 years (from August 2008 to August 2015). SUBJECTS AND METHODS: The study included patients diagnosed with congenital fibrinogen deficiency. The confirmation of diagnosis was done based on a low fibrinogen assay. All the fibrinogen deficient patients were diagnosed on basis of having fibrinogen level (<150 mg/dl). RESULTS: There were 111 cases of other coagulation factors deficiency (rare bleeding disorders) registered in the center, congenital fibrinogen deficiency represented 25 (22.5%) of them. Out of 25 patients with congenital fibrinogen deficiency, 8 patients (32%) had fibrinogen level <20 mg/dl (afibrinogenemia) and 17 patients (68%) had fibrinogen level between (20 and 150 mg/dl) (hypofibrinogenemia). The males were 17 patients (68%) and females were 8 patients (32%). The consanguinity was present in 16 (64%) and 11 patients (44%) who had a positive family history of the diseases. The patients with afibrinogenemia mostly presented with hemarthrosis (22.7%) while patients with hypofibrinogenemia mostly presented with menorrhagia (50.0%). The patients who were their symptoms manifested before the 1st year of their age most frequently developed life-threatening bleeding (central nervous system and gastrointestinal bleeding) which were observed in 4 cases. Most of the patients included in this study were without complications (80%) while just one patient (4%) died due to gastrointestinal bleeding others were complicated with viral hepatitis, hepatitis B in one patient (4%) and 3 patients (12%) developed hepatitis C. CONCLUSIONS: Congenital fibrinogen deficiency founded to be one of the most frequent rare bleeding disorders among Iraqi patients, with a high rate of consanguineous marriage and positive family history. There was a high frequency of life-threatening bleeding among patients who develop symptoms before the 1st year of their age, without notable major complications among the majority of patients.

Keywords

• clinical presentation of congenital fibrinogen deficiency
• congenital fibrinogen deficiency
• prevalence of congenital fibrinogen deficiency