血友病性膝关节病误诊一例报告

1 case report:misdiagnosis of hemophilic knee arthropathy

目的报告1例血友病性关节病误诊35年的病例，为临床医师提供借鉴的经验与教训。方法患者，男，42岁；7岁起发病，35年，多家医院均未能确诊，术后方明确血友病性关节病的诊断。结果患者7岁时出现“双髋、双膝酸困不适及疼痛，渐进性加重，伴关节活动幅度逐渐减小”等症状被当地医院误诊为“类风湿性关节炎”对症治疗，因效果不佳，于1个月后在当地人民医院误诊为“双膝骨结核”，给予口服抗结核药物治疗，症状无缓解，之后双髋、双膝关节反复出现疼痛、肿胀、活动受限达35年。于近期加重，我院以“双膝关节类风湿性关节炎”收住院。行膝关节表面置换术，尽管术后给予伤口处加压包扎、冰敷、常压引流等处理，术后第1天引流量高达2400ml，且伤口敷料持续出现大量渗血。始考虑是否有血液系统疾病漏诊即请血液科会诊。查：特异性凝血因子Ⅷ为13．70（正常值：O．60～1．60）、Ⅸ103．30（正常值：0．80-1．20）方确诊为甲型血友病性关节病。结论本例甲型血友病性关节病长期误诊，教训深刻。提示临床医师须强化病史问诊的能力，重视相关疾病的体征以提高对不同关节炎疾病的鉴别诊断能力，必要时，应及时请相关专科医师会诊。

Objective To report a case of hemophilic arthritis misdiagnosed for 35 years, and to provide clinicians with experience and lessons for reference. Methods The patient was from the Department of Orthopedics of the 2nd Affiliated Hospital of Shanxi Medical University, who had the disease at the age of 7. Definite diagnosis has not been made even though the patient had been seeking medical advice from county, district and provincial hospitals in the past 35 years. Only after the operation, the diagnosis of hemophilic arthritis was confirmed. Results This 42-year- old male patient felt painful, tired and discomfortable in both hips and knee joints at the age of 7, which was aggravated progressively, with the range of motion reduced gradually. Because of the symptoms stated above, he was misdiagnosed as ＂rheumatoid arthritis （ RA ）＂ in the local hospital. While the symptomatic treatment did not work well. A month later, he was misdiagnosed as ＂double knee bone tuberculosis＂ in the local people＇s hospital. Oral anti-tuberculosis drugs could not help relieve the symptoms, and pain, swelling and limited range of motion occurred repeatedly in both hips and knee joints in the following 35 years. The patient＇s conditions worsened recently, and he was misdiagnosed as ＂double knee RA＂ in our hospital. Total knee arthroplasty was performed. Although such treatments were given to the wound postoperatively as pressure dressing, ice compress, atmospheric drainage and so on, the drainage volume reached up to 2400 ml at the 1 st day after the operation and massive bleeding was continuously found at the wound dressing. We began to consider whether the patient had hematological diseases, and then we held a consultation with the doctors from the Hematology Department. The results showed that the specific coagulation factor VIII was 13.70 （ the normal values were 0.60-1.60 ）, and the specific coagulation factor IX was 103.30 （ the normal values were 0.80-1.20 ）. Finally, the diagnosis of hemophilia arthritis was confirmed. Conclusions The long-term misdiagnosis of this case of hemophilia arthritis is a profound lesson, which reminds the clinicians to strengthen the capability of inquiring the medical history. More attention is needed to detect the signs of related diseases and to improve the ability of differentially diagnosing different kinds of arthritis. When necessary, it is advised to hold a consultation with related specialists without delay.