Rahman Tanzeel U, Salih Noman, Rashid Nasar, Ahmad Maaz, Khan Asad, Yousufi Zainab
Paediatrics, Hayatabad Medical Complex Peshawar, peshawar, PAK.
General Internal Medicine, Hayatabad Medical Complex Peshawar, Peshawar, PAK.
Cureus. 2023 Sep 21;15(9):e45663. doi: 10.7759/cureus.45663. eCollection 2023 Sep.
This case report delves into an uncommon coagulopathy recognized as factor V and VIII deficiency (F5F8D), which follows an autosomal recessive inheritance pattern. The focal point of this study is a five-year-old Asian female who was initially presented with complaints of hematuria, epistaxis, and bruises all over the body. Comprehensive haematological and coagulation profiling unveiled indicators such as diminished haemoglobin levels and prolonged activated partial thromboplastin time (aPTT), prothrombin time (PT), and international normalized ratio (INR). Subsequent factor assays demonstrated noteworthy reductions in both factor V and factor VIII activities, unequivocally confirming the existence of a concurrent deficiency in these crucial factors. Notably, patients exhibiting elongated INR, PT, and aPTT values necessitate a comprehensive assessment for potential combined deficits in factors V and VIII when formulating a differential diagnosis. In cases where substantial bleeding manifestations are evident during the patient's presentation, it is prudent to exercise judicious medical management strategies.
本病例报告深入探讨了一种罕见的凝血病，即因子V和VIII缺乏症（F5F8D），它遵循常染色体隐性遗传模式。本研究的重点是一名五岁的亚洲女性，她最初出现血尿、鼻出血和全身瘀伤的症状。全面的血液学和凝血分析揭示了血红蛋白水平降低、活化部分凝血活酶时间（aPTT）、凝血酶原时间（PT）和国际标准化比值（INR）延长等指标。随后的因子检测显示因子V和因子VIII活性均显著降低，明确证实了这些关键因子同时缺乏的存在。值得注意的是，当制定鉴别诊断时，INR、PT和aPTT值延长的患者需要对因子V和VIII的潜在联合缺乏进行全面评估。在患者就诊时出现大量出血表现的情况下，谨慎实施明智的医疗管理策略是明智的。
