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

Abstract

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. 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. 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.