4. The Diagnostic Journey: Tests and Challenges in Identifying Protein C Deficiency
Diagnosing protein C deficiency involves several steps. The initial step often includes a detailed medical history and physical examination. This step aims to identify symptoms suggestive of abnormal clotting.
Blood tests play a pivotal role in the diagnosis. These tests measure the quantity and function of protein C in the blood. They help in distinguishing between Type I and Type II deficiencies.
The challenge in diagnosis often lies in the variability of symptoms. Many individuals with mild deficiency might remain asymptomatic for years. This fact underscores the importance of considering genetic testing, especially for those with a family history.
Complex cases may require specialized testing. These tests include genetic sequencing of the PROC gene. Such advanced diagnostic tools aid in confirming the diagnosis. They also assist in planning long-term management strategies. (4)
