The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64). Impact of disease-Attendance at school, sports, and social activity were significantly aVected by AFD. Only 56.6% (n=46) of patients were employed. Psychosexual eVects of genital angiokeratoma, genital pain, and impotence were not previously recognised. Conclusion-The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved useful for the determination of baseline disease parameters in this cohort. (J Med Genet 2001;38:750-760)

The objectives of this study were to analyse current levels of health-related quality-of-life (HR-QoL) in individuals with severe haemophilia and to assess the scope for these levels to improve. To do this, 249 individuals with severe, moderate and mild haemophilia were asked to complete Medical Outcomes Study (MOS) Short-Form 36 (SF-36) and EuroQol (EQ-5D) questionnaires. Access was also gained to two appropriate normative data sets. The results from these questionnaires showed that HIV status, history of orthopaedic surgery and bleeding frequency in the previous calendar year were not strong predictors of HR-QoL for individuals with severe haemophilia. However, for the majority of scales, age was found to be a strong predictor of HR-QoL for this patient group. The results from the analysis also showed that compared to individuals with moderate/mild haemophilia and the UK male normative population, individuals with severe haemophilia generally recorded poorer levels of HR-QoL. These results suggest, therefore, that individuals with severe haemophilia have reduced levels of HR-QoL compared to individuals with moderate/mild haemophilia and the general population, irrespective of differences in age. The results also suggest that the scope for primary prophylaxis to increase HR-QoL in individuals with severe haemophilia is significant.

Despite the high costs of treatment, primary prophylaxis was cost effective compared with treatment on-demand in some scenarios. Primary prophylaxis is more likely to be cost effective for individuals with severe haemophilia B compared with individuals with severe haemophilia A/severe von Willebrands disease. Further research is required to assess the relationship between methods of clotting factor infusion and health-related quality-of-life.

The majority of individuals in the UK with severe haemophilia treat themselves at home with clotting factor. The aim of this study was to examine patient's beliefs about their haemophilia, their beliefs regarding treatment with clotting factor and to assess whether relationships existed between these factors and adherence to home treatment. Patient beliefs were assessed by posting individuals with severe haemophilia A and B (n ¼ 104) the Illness Perceptions Questionnaire (IPQ) and the Beliefs about Medicines Questionnaire (BMQ). The final analysis was based on 65 questionnaires yielding a response rate of 63%. Adherence to the frequency and to the amount of each clotting factor dose was assessed for individuals treating prophylactically and the amount of each clotting factor dose for those only treating 'on-demand'. Adherence scores were calculated by comparing individual patient treatment records with recommended regimens. Regression analysis indicated that perceptions of illness identity and treatment necessity explained a significant amount of the variance in adherence to frequency of prophylactic infusions and that illness identity was associated with the adherence to the amount of each prophylactic dose. Further regression analysis also showed that the amount of each dose of clotting factor administered on-demand was associated with perceptions regarding the necessity of treatment. Analysis with a combined measure of adherence to dose amount indicated that patients treating on-demand or with prophylaxis who under treated, recorded significantly lower perceptions of illness consequence than individuals who were fully adherent or who over-treated. The results suggest that assessing illness perceptions, especially beliefs regarding identity, consequence and necessity of treatment, may play a valuable role in identifying which individuals are least likely to adhere to treatment.

The practice of prophylactic treatment of boys with severe haemophilia has been evaluated in our centre. Prophylaxis was started at the median age of 3.7 years (range 0.4-12.7 years) in 38/41 children (93%) under 17 years of age. Median follow-up was 4.1 years (range 0.4-12.7 years). The criteria of primary prophylaxis according to the definition by the European Paediatric Network of Haemophilia Management was fulfilled by 9/38 (24%). Although a majority [76%, 29/38] of the children started prophylaxis after a median number of joint bleeds of 3.5, 70% of the children in this group had clinical joint scores of 0. Intravenous catheter insertion was required at a median age of 15.5 months (range 5-36 months) in 21% of the children, resulting in a catheter infection rate of 1.74 per 1000 catheter days. None developed an inhibitor on prophylaxis and three patients who had low-titre inhibitors (< 5 Bethesda units) prior to prophylaxis had undetectable inhibitors after prophylaxis. The home-treatment training programme required considerable time and cost. As a result, 87% of the children used peripheral venous access and hospital visits declined as prophylaxis became established. Parents' incentives for prophylaxis were that the children undertook many physical activities and sports previously not recommended, there was less parental anxiety and an overall improvement in the quality of life for the whole family.