Prophylaxis therapy in haemophilia A: current situation in Spain.

The Spanish Epidemiological Study in Haemophilia carried out in 2006 enrolled 2400 patients [2081-86.7% with haemophilia A (HA) and 319-13.3% with haemophilia B]; 465 of them (19.4%) were on prophylaxis. These rates were higher in patients with severe haemophilia (45.4%) and severe paediatric cases (72.5%). On the basis of information recorded in this study, we analysed the current situation of prophylaxis therapy administered to patients with HA in Spain, as well as their orthopaedic status. Prophylaxis was used in 399 (19.2%) patients with HA; such prophylaxis was primary (PP) in 20.3% and secondary (SP) in 75.9% of cases. Among severe HA patients, 313 (45.9%) were on prophylaxis (22.3% on PP and 74.7% on SP). Taking into account the patients' age, 34.7% of severe HA adults were on prophylaxis (6% PP and 92.1% SP), whereas 71.5% of severe HA paediatric patients (40.5% PP and 55.4% SP) received this kind of treatment. Established haemophilic arthropathy (EHA) was detected in 142 from 313 severe HA patients (45.3%) on prophylaxis, but only in 2.9% of patients under PP vs. 59% of patients receiving SP. There was no EHA in adult severe HA patient on PP, whereas 70.4% on SP had joint damage (P < 0.00001). Among paediatric severe HA patients, EHA was detected in 3.3% under PP and 37.8% under SP (P < 0.00001). In conclusion, our data suggest that an early initiation of prophylaxis avoids EHA in the long-term in patients with severe HA. We should emphasize the early onset of prophylaxis regimens.

Psychometric field study of the new haemophilia quality of life questionnaire for adults: the 'Hemofilia-QoL'.

Although there is a worldwide interest in the assessment of health-related quality-of-life (HRQoL) in haemophilia patients, no non-disease specific instruments (for adults) are readily available. In this paper, a haemophilia-specific quality-of-life assessment measure for adults (the Hemofilia-QoL questionnaire) has been developed and tested for psychometric properties in 121 adults with haemophilia living in Spain. The Hemofilia-QoL questionnaire is a self-report modular instrument that assesses nine relevant HRQoL domains for patients with haemophilia (e.g. physical health, daily activities, joint damage, pain, treatment satisfaction, treatment difficulties, emotional functioning, mental health, relationships and social activity). Psychometric examination involved the assessment of data quality, scaling assumptions, reliability (internal consistency and test-retest) and validity (concurrent; external clinical criterion and sensitivity). The Hemofilia-QoL 36-item version questionnaire had acceptable internal consistency and retest reliability values. The questionnaire shows excellent concurrent validity (with the SF-36 Health Survey) and external clinical criterion validity (haemophilia clinical status) and sensitivity (health status changes) as well. The Hemofilia-QoL is now available for adult assessment and is ready for use in clinical research in Spain.

Value of magnetic resonance imaging for the diagnosis and follow-up of haemophilic arthropathy.

An orthopaedic assessment of the joint status of seven severe haemophiliacs (mean age 12.5 y - range 8.9-15.5) on prophylactic treatment (PT) by magnetic resonance imaging (MRI) and physical examination was carried out. Median duration of PT of these patients was 84 months (range 32-107). A locally designed MRI joint score considering seven parameters (1 - joint effusion, 2 - synovial membrane thickening, 3 - haemosiderin deposits, 4 - joint cartilage injury, 5 - subchondral bone erosion, 6 - subchondral bone cysts, 7 - osteonecrosis) was used (maximum score = 13 points). MRI scans were performed in 17 joints (nine ankles, seven knees and one elbow): mean MRI scores for the affected joints was 5.1. A poor consistency between physical examination and MRI findings or the real extent of joint damage was found (Cohen kappa index 0.320). MRI is a precise non-invasive tool for the assessment of early joint cartilage and synovium pathological changes still undetectable by physical examination or conventional X-rays in the haemophilic setting.

An emerging role for interferon in haemophiliacs with chronic hepatitis C?

The combination of interferon (IFN) and ribavirin is the current gold standard for treatment of chronic hepatitis C virus (HCV) infection with sustained remission rates of 35--40% being achieved in haemophilic patients. A similar beneficial effect of this combined therapy has been suggested even for patients with compensated liver cirrhosis and some authors have reported a possible role for IFN and ribavirin in the prevention or delay in the development of hepatocellular carcinoma (HCC), a well known complication of HCV infection in haemophiliacs. The absence, due to design difficulties, of definite randomized controlled clinical trials remains a handicap for the routine use of specific therapy of HCV infected patients with the aim of preventing HCC. A discussion of these important issues has been performed in this paper.

Successful outcome of a cirrhotic patient with postoperative haematuria treated with a single high dose of recombinant factor VIIa.

Recombinant factor VIIa (rfVIIa) has been widely used for the treatment and prevention of bleeding episodes in haemophiliacs with high-titre inhibitors. High single doses are the treatment of choice for joint and muscle bleeds in those patients. There are only a few reports on the value of rfVIIa in cirrhotic patients with haemostatic impairment but this drug can consistently correct the prothrombin time in these individuals. We report a case of a good response to a single high dose of rfVIIa in a patient with advanced liver disease who suffered from severe refractory postoperative haematuria.

Estudio epidemiológico de la hemofilia en España / Epidemiological study of hemophilia in Spain

El objetivo de este estudio epidemiológico fue la caracterización de un grupo representativo de pacientes del territorio español afectos de hemofilia con relación a su situación diagnóstica, clínica, terapéutica y a las complicaciones de la enfermedad y de su tratamiento. Se llevó a cabo por medio de un cuestionario que se envió a todos los centros de tratamiento. Resultados: fueron remitidos 825 cuestionarios evaluables, lo que corresponde aproximadamente a un tercio de la población hemofílica española. El 88 por ciento de los hemofílicos padecían hemofilia A y el 12 por ciento hemofilia B. El 36 por ciento graves (nivel inferior al 2 por ciento). La gran mayoría de pacientes estaban siguiendo un programa de tratamiento a demanda (79 por ciento). Un reducido número seguía, en el momento del registro, un tratamiento de profilaxis secundaria (17 por ciento), y tan solo un 3,4 por ciento seguía un programa de profilaxis primaria. El consumo medio de factores por paciente durante el año 1995, fue de 45.945 UI, lo que correspondería a una media de 706 Ul/kg/año. El 30 por ciento de los pacientes presentaban una o más articulaciones con algún grado de afectación. Los pacientes graves presentaban un total de 627 articulaciones afectadas de media por paciente. El 7,3 por ciento del total presentaba o habían presentado inhibidor. El 27 por ciento tenían anticuerpos anti-VIH. Los anticuerpos de la hepatitis C estaban presentes en el 61 por ciento. El antígeno HBs fue positivo en el 4 por ciento. (AU)

Haemoperitoneum caused by haemorrhagic corpus luteum in a patient with type 3 von Willebrand's disease.

In female patients affected by congenital coagulation disorders haemorrhagic corpus luteum must be considered for the differential diagnosis of acute abdomen. We report the complication in a 22-year-old woman with type 3 von Willebrand's disease who presented with abdominal pain and haemorrhagic shock. Along with adequate factor VIII replacement therapy oral contraceptive treatment is the key for the management of this potentially life-threatening complication and the long-term prevention of future bleeding episodes of this origin.