Diagnosis and classification of hereditary fibrinogen disorders

Abstract

Hereditary fibrinogen disorders (HFDs) are rare bleeding disorders with a wide spectrum of biological and clinical features. While most patients with HFDs are at risk to suffer from mild to severe, sometimes life-threatening bleeding, thrombotic events are also common. Therefore, an appropriate diagnosis is needed to offer the optimal treatment. Diagnosis of HFDs can be challenging and plenty of pitfalls. The sensitivity and specificity of hemostasis routine test are depending on the reagents, the methods, and the fibrinogen variants. To distinguish subtypes of HFDs additional tests are often required. Historically based on the assessment of fibrinogen levels, a recent classification also considers the clinical phenotype and the genotype. In this short review, diagnosis strategies and HFDs classification are reviewed.