Hereditary protein C deficiency caused by heterozygous mutants in adolescents: two cases report and literature review

This article presents two cases of hereditary protein C deficiency (HPCD) that have been caused by compound heterozygous mutations in the PROC gene. HPCD is a rare genetic disorder that can lead to severe thrombotic events and complications. Clinical presentations can range from being asymptomatic to deep vein thrombosis, pulmonary embolism, cerebral thrombosis, and fulminant purpura. The article provides a detailed exposition of the disease progression and family history of the two patients, employing the Motta method to review their diagnostic and therapeutic processes. Through these cases, it highlights the significance of timely recognition of HPCD when treating adolescents presenting with symptoms such as headache, lower limb edema, and chest pain. Furthermore, they highlight the necessity of considering family history of young patients and those with recurrent thrombosis. Following the diagnosis of HPCD, it is imperative that early diagnosis and intervention be promptly initiated for other family members. Collaborative management between general practitioners and specialists is crucial for the long-term care of HPCD patients and PROC mutation carriers. This collaborative management may include including lifestyle adjustments and reproductive guidance, which is significant for enhancing primary care and preventing thrombotic risks.