Vasava Renuka, Shastri Minal, Rathod Vaishnavi M, Laha Gayatri, Vaishnovi Vaishnovi, Patel Nipakumari J, Deshagoni Rajani, Singh Prerna, Joshi Nandan, Raval Darshankumar M
General Medicine, Sir Sayajirao General Hospital, Medical College Baroda, Vadodara, IND.
General Medicine, Parul Institute of Medical Sciences and Research, Vadodara, IND.
Cureus. 2024 Feb 21;16(2):e54663. doi: 10.7759/cureus.54663. eCollection 2024 Feb.
Introduction Hemophilia is an uncommon, X-linked recessive bleeding condition characterized by a lack of either factor VIII or factor IX. It is more prevalent in men. Due to the substantial impact inhibitor development has on patient prognosis, the primary treatment for hemophilia is the transfusion of recombinant factors. The aim of our study is to investigate 40 adult patients with hemophilia in terms of their clinical profile, clinically relevant risk factors for inhibitor development, therapy-related aspects such as treatment duration, factor requirements, transfusion frequency, presence of inhibitors, and complications. Methods This cross-sectional observational study involving 40 patients of hemophilia over 12 years of age was conducted at a tertiary care hospital in Gujarat. Data on sociodemographic characteristics, presenting complaints, bleeding episodes, hemophilia type, and medical history were gathered over a one-year span. Patients were stratified into mild, moderate, and severe groups based on their respective levels of factor activity. Various parameters, including the frequency of factor therapy, percentage of factor concentrate, inhibitor presence, and disease and therapy-related complications, were analyzed. The distribution of patients across these parameters was calculated and illustrated using pie charts. Results Nineteen out of 40 patients were from 20 to 40 years of age. The majority of cases (n=24), however, had been diagnosed before the patients reached the age of 10. All patients were male, and half of the patients (n=20) suffered from mild disease. The most common site of bleeding was the knee joint, and 33 cases had one to 10 bleeding episodes per year. Thirty-two out of 40 patients needed less than 40 factor vial transfusions, whereas eight needed more than 40 factor vial transfusions. Two cases of severe disease were positive for inhibitors of factor VIII, whereas one patient was found to have a hepatitis B virus (HBV) infection. Conclusions Hemophilia, a rare bleeding disorder, has primarily been studied in pediatric populations. This study, however, shifts the focus toward adult individuals. Our cohort consisted exclusively of male patients, with the predominant group diagnosed with hemophilia A and falling within the age range of 20 to 40 years. Most patients had been diagnosed before 10 years of age. The primary complication observed was joint bleeding, with the knee joint being the most commonly affected site. Approximately two-thirds of cases had a history of minor trauma necessitating factor replacement, yet only 5% exhibited the presence of inhibitors.
引言
血友病是一种罕见的X连锁隐性出血性疾病，其特征是缺乏凝血因子VIII或凝血因子IX。男性中更为常见。由于抑制物的形成对患者预后有重大影响，血友病的主要治疗方法是输注重组因子。我们研究的目的是调查40例成年血友病患者的临床特征、抑制物形成的临床相关危险因素、治疗相关方面，如治疗持续时间、因子需求、输血频率、抑制物的存在情况以及并发症。
方法
这项横断面观察性研究在古吉拉特邦的一家三级医院进行，纳入了40例年龄超过12岁的血友病患者。在一年的时间里收集了社会人口学特征、主诉、出血发作情况、血友病类型和病史等数据。根据患者各自的因子活性水平将其分为轻度、中度和重度组。分析了各种参数，包括因子治疗频率、因子浓缩物百分比、抑制物的存在情况以及疾病和治疗相关并发症。计算了患者在这些参数上的分布情况，并使用饼图进行说明。
结果
40例患者中有19例年龄在20至40岁之间。然而，大多数病例（n = 24）在患者10岁之前就已被诊断出来。所有患者均为男性，其中一半患者（n = 20）患有轻度疾病。最常见的出血部位是膝关节，33例患者每年有1至10次出血发作。40例患者中有32例需要少于40瓶因子输注量，而8例需要多于40瓶因子输注量。2例重度疾病患者的凝血因子VIII抑制物呈阳性，而1例患者被发现感染了乙型肝炎病毒（HBV）。
结论
血友病是一种罕见的出血性疾病，此前主要在儿科人群中进行研究。然而，本研究将重点转向了成年个体。我们的队列仅由男性患者组成，主要群体被诊断为血友病A，年龄在20至40岁之间。大多数患者在10岁之前就已被诊断出来。观察到的主要并发症是关节出血，膝关节是最常受累的部位。约三分之二的病例有轻微创伤史，需要进行因子替代治疗，但只有5%的病例出现抑制物。
