Pediatric Severe Hemophilia: Initial Presentation, Characteristics, And Complications

摘要

Purpose: To review the natural history of severe Hemophilia A & B (Factor VIII & IX, < 1%), including initial presentation at diagnosis, radiograph characteristics, and complications.Methods: Questionnaires were filled out by families. All inpatient and outpatient records were reviewed, and radiographs were analyzed by one radiologist. Results: 64.3 % of the patients were diagnosed at birth (within 7 days of birth) (0.38, 0.90, 95% CI). The initial event was divided between iatrogenic bleeding event (Total n=9[60%]), with 8(53.3%) cases diagnosed after uncontrolled bleeding with circumcision, and spontaneous bleeding event (Total n=6[40%]), with bruising/hematoma [4(26.7%)] being the commonest cause. 5 (33%) out of 15 developed inhibitors, 8 (53%) had history of severe bleeding episodes (> 25 per year) and 7(46%) had severe joint arthropathy. Hepatitis C was the commonest infectious complication seen in our population, 5(33.3%) cases in total. Conclusions: Severe Hemophilia presents at an early age; therefore, attention to family history and early bleeding episodes is critical. Prophylactic factor therapy should be started at an early age to prevent major bleeding complications. Introduction Hemophilia is the second most common congenital bleeding disorder, occurring in 20 of every 100,000 males in the United States. Deficiency of Factor VIII (Hemophilia A) accounts for 85% of the cases and 15% are due to Factor IX (Hemophilia B) deficiency. They are both inherited as X-linked recessive disorder. Clinically, it is useful to classify them according to the measured Factor VIII and IX activity in the plasma as: severe 5 units/dl.Generally, persons with severe Hemophilia have frequent, spontaneous bleeding episodes that usually involve major joints, muscles, or soft tissue and may lead to residual morbidity. Current estimates of incidence indicate that 1 in 10,000 males are affected by severe Hemophilia A and 1 in 50,000 males by severe Hemophilia B. [1] Patients And Methods A total of 15 patients were diagnosed with severe Hemophilia A and B during the period 1974 to 2001 at Columbus Children's Hospital Hemophilia Clinic. For each of these patients, all available inpatient and medical records were obtained, including records from outside hospitals whenever necessary. In addition, patient or parent interviews and questionnaires were used to supplement information whenever possibleDemographic data such as age, race, type of factor deficiency, and family history of bleeding were collected. We analyzed only the bleeding episodes for which medical assistance was sought. For evaluating joint arthropathy radiographs were reviewed by our staff musculoskeletal radiologist. These films included at least two studies and as many as 16 studies for each patient. Each study included at least two views of the joint involved. Follow-up images were done between 1 year and 7 years from the initial exam. The images were reviewed and retrospectively staged using the five stage scale devised by Arnold and Hilgartner [2].Arnold's classification system is based on roentgenographic findings and was devised to determine timing for surgical care. The features considered in the classification system are related to the destruction of articular cartilage and subsequent underlying bone erosion. Figures A, B and C illustrate the various stages of arthropathy seen in our study.