Clinical Profile of Adult Hemophilia Patients with Special Reference to FISH and WFHPE Score: An Observational Cross-sectional Study.

BACKGROUND AND OBJECTIVES: Hemophilia is an X-linked recessive inherited disease affecting the coagulation pathway due to congenital deficiencies in either factor VIII (hemophilia A) or factor IX (hemophilia B). The clinical assessment of a patient's functional ability and the state of joint conditions is carried out by the clinicians by administering questionnaires namely the Gilbert or the World Federation of Hemophilia Physical Examination (WFH-PE) score for joint condition and Functional Independence Score in Hemophilia (FISH) for joint function. Here, we have studied the clinical profile of adult hemophilia patients with the short- and long-term complications of the disease. Additionally, the FISH score and the Gilbert score are calculated to assess functional independence and joint condition, respectively. The scores were also compared according to the severity of the disease. MATERIALS AND METHODS: An observational cross-sectional study of 40 adult hemophilia patients was carried out in Sir Sayajirao General Hospital and Medical College, Baroda, Gujarat, India, over a period of 1 year. Data regarding age, sex, and complications associated with the disease were collected in the form of a questionnaire. The overall mean and standard deviation (SD) of FISH and Gilbert scores were calculated and correlated with the severity of the disease. RESULTS: The majority of cases (19) were between 20 and 40 years, and most (24) were diagnosed in childhood. All the subjects were male and all except one had hemophilia A. Family history was seen in only half of the cases. Nine had mild, 20 had moderate, and 11 had severe disease. Around 46% of the subjects had joint arthropathy with the knee joint most affected (60%) followed by the ankle (22.5%). The mean FISH score was 27.132 ± 4.0691 with a minimum score of 15 in severe disease suggesting more functional deficit. The average Gilbert score was 7.4 ± 2.985 with a maximum score of 14 in severe disease suggesting more joint damage Interpretations and conclusion: All subjects were male and except one all had hemophilia A. Majority were between 20 and 40 years but most were diagnosed before 10 years of age and only 50% had positive family history. Arthropathy is the most common complication with the knee joint being most affected. Majority of mild hemophiliacs achieved a maximum FISH score denoting maximum functional capacity. Compared to existing studies, our study showed better FISH scores in moderate hemophiliacs suggesting more functional independence. While comparing Gilbert's score to other studies, moderate and severe hemophiliacs in our study showed less joint damage.

A Study of Clinical Profile and Treatment in Adult Hemophilia Patients with Special Reference to the Inhibitor Levels.

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.