Spectrum of Coagulation Factor Deficiencies and the Approach to Diagnosis

Coagulation factor deficiencies, which can be inherited or acquired, disrupt the intricate process of hemostasis, leading to bleeding disorders. Inherited deficiencies result from genetic mutations affecting coagulation factor synthesis or function, while acquired deficiencies are more common and arise from factors such as diminished hepatic synthesis, vitamin K deficiency, or increased consumption. In this manuscript, we elaborate on the coagulation pathways, specific factor deficiencies, and the various laboratory tests to detect those entities. Each deficiency is characterized by varying degrees of bleeding severity, specific clinical manifestations, and unique laboratory findings. Effective diagnosis requires a systematic approach, including a detailed clinical history, standardized bleeding assessment tools, and coagulation screening tests such as PT and APTT. Mixing studies and specific factor assays are crucial for differentiating between factor deficiencies and inhibitors. A thorough understanding of these deficiencies is essential for accurate diagnosis and appropriate management.