Health-related quality of life questionnaires in individuals with haemophilia: a systematic review of their measurement properties.

BACKGROUND: The evaluation of health related quality of life (HRQOL) is essential for a full assessment of the influence of an illness on patients' lives. The aim of this paper is to critically appraise and compare the measurement properties of HRQOL questionnaires studied in haemophilia. METHODS: Bibliographic databases (Embase, Medline, Cinahl and PsycInfo) were searched for articles evaluating measurement properties of HRQOL questionnaires in haemophilia. Articles were excluded that did not report HRQOL measurement properties, or when <50% of the study population had haemophilia. The methodological quality of the selected studies was evaluated using the COSMIN checklist. The measurement properties of the HRQL questionnaires were rated as 'positive', 'indeterminate' or 'negative', accompanied by levels of evidence. RESULTS: The search resulted in 1597 unique hits, of which 22 studies were included. These articles evaluated three questionnaires for children (CHO-KLAT, Haemo-QoL and one unnamed measure) and five for adults (Hemofilia-QoL, Haemophilia Well-Being Index, HAEMO-QoL-A, Haem-A-QoL, and SF-36). The CHO-KLAT was the paediatric measure that showed the strongest measurement properties in high-quality studies. The Haemophilia Well-Being Index and HAEMO-QoL-A performed best among the adult measures. None of the studies reported measurement error and responsiveness. CONCLUSION: Our findings suggest that there is no need for new disease-specific HRQOL questionnaires for haemophilia, but rather that additional research is necessary to document the measurement properties of the currently available questionnaires, specifically focusing on the structural validity, measurement error and responsiveness of these questionnaires.

Unmeasured costs of haemophilia: the economic burden on families with children with haemophilia.

INTRODUCTION AND OBJECTIVES: Although economic evaluations of haemophilia-related care have highlighted both the health care payer and societal perspectives, the costs to families with children with haemophilia have not been examined. This study determined the costs incurred by families of children with haemophilia, attending a haemophilia treatment centre (HTC), servicing a large geographical area in Eastern Canada. METHODS: Families recorded all direct and indirect costs associated with haemophilia-related care for a year. Costs incurred to receive care at the HTC and local health care centres were compared. The relationship between distance to the HTC and costs was modelled using linear regression. RESULTS: Participants included 31/45 children (68%) from 27 families attending the HTC. Median age was 12 years (range: 0.5-17 years); 24/31 (77%) had severe haemophilia. The median distance to the HTC and local health care facility was 230 km (range: 7-600 km) and 33.5 km (range: 2-400 km) respectively. Due to this difference in distance, 23/31 (74%) children do not attend the HTC for management of acute haemorrhage. The median annual total cost per family to attend the HTC is $775.93 (range: $200.00-$5741.00). The total cost to attend the HTC increases by $2.16 (95% CI 1.24-3.9) per kilometer from the HTC. The median total annual cost of haemophilia-related care per family is $1222.50 (range: $396.00-$8037.00). CONCLUSION: Families incur high costs related to haemophilia care. The distance to the HTC is a barrier to care. Improving access to HTCs is paramount in improving haemophilia-related outcomes.

The use of ultrasound in endemic Burkitt lymphoma in Cameroon.

BACKGROUND: As ultrasound (US) has become more widely available in sub-Saharan Africa, emerging evidence suggests that the prevalence of abdominal disease in endemic Burkitt lymphoma (eBL) is higher than previous estimates. This retrospective chart review was designed to assess: (1) abdominal US utilisation, (2) the incidence of abdominal disease at diagnosis, (3) correlation of extent of disease at diagnosis with overall and event-free survival (EFS). PROCEDURE: The charts of 95 consecutive children with eBL diagnosed between April 2006 and 2008 and treated according to the Malawi 2002/03 protocol at the Banso Baptist Hospital in Cameroon were examined for demographics, clinical presentation, diagnostic workup and outcome. Analysis was performed using descriptive statistics, Z-tests and Student's t-tests. RESULTS: Fifty of 95 presumptive eBL patients (52.7%) had fine needle aspirate (FNA) confirmation of their tumours. Ninety-four of 95 had an US at diagnosis. US was superior to clinical exam in demonstrating abdominal disease (P < 0.001). There was no significant difference between the rates of jaw (73%) and abdominal disease (82%) identified by US at diagnosis. EFS among patients whose disease was upgraded by US (64%) was better that of the patients with clinically diagnosed stage 3 disease. CONCLUSIONS: We demonstrate that US provides more accurate staging of eBL than clinical examination. Abdominal involvement is more common than previously reported and appears to be as frequent as disease of the jaw at presentation. Further study should determine if more accurate staging with US is useful in risk-stratifying treatment.

Diagnosis and management of neonatal purpura fulminans.

Neonatal purpura fulminans is a rare, life-threatening condition, caused by congenital or acquired deficiencies of protein C or S. The condition is often fatal unless there is early recognition of the clinical symptoms, prompt diagnosis, and judicious replacement therapy is initiated. The clinical presentation is that of acute disseminated intravascular coagulation and hemorrhagic skin necrosis. The management includes an acute phase of replacement therapy with fresh frozen plasma or protein C concentrate and a maintenance therapy that includes anticoagulation with warfarin or low molecular weight heparin. This review focuses on the management of severe protein C deficiency.

A laparoscopic approach to partial splenectomy for children with hereditary spherocytosis.

BACKGROUND: Partial splenectomy is sometimes used for children with hereditary spherocytosis (HS) to reduce hemolysis while retaining some splenic immune function. Previous reports have described a partial splenic resection through a laparotomy incision. Whereas laparoscopic total splenectomy for HS is well-established, laparoscopic partial splenectomy (LPS) has not been described. The authors have developed a novel LPS technique that combines the benefits of partial splenectomy with those of a laparoscopic approach. METHODS: A chart review was conducted for three children with HS who underwent LPS, with approximately one-fourth of the spleen left on the basis of the short gastric arterial supply. RESULTS: The mean preoperative spleen size was 17.6 cm. The mean preoperative hemoglobin count was 100 g/l, and the postoperative hemoglobin count was 133 g/l. All three patients reported reduced malaise and increased energy levels. There was no recurrent anemia at the 1- to 2-year follow-up evaluation. CONCLUSION: The LPS procedure is a safe and effective approach to HS that resolves anemia, potentially retains some splenic immunity, and confers the benefits of a minimal access technique.

A prospective, longitudinal study of central venous catheter-related deep venous thrombosis in boys with hemophilia.

BACKGROUND: Central venous catheters (CVCs) are often inserted into boys with hemophilia to secure venous access for factor prophylaxis and immune tolerance induction therapy. Complications associated with CVCs include catheter-related infections, local hemorrhage, and mechanical failure. Less frequently reported is CVC-related deep venous thrombosis (DVT). We conducted a prospective study to determine the frequency and outcome of this complication. METHODS: All boys (n = 16) with congenital hemophilia A or B with a CVC in place who were registered in the pediatric comprehensive care program at the Hospital for Sick Children, Toronto, were included in the study. They were prospectively assessed by imaging studies and clinical examinations for CVC-related DVT at two time-points, 2 years apart. Each boy was evaluated for inherited hypercoagulability. RESULTS: Eleven (69%) of the 16 boys had radiological evidence of DVT at the first evaluation and 13/16 (81%) at the second evaluation. In two boys there was improvement in the venogram findings at the second evaluation. None of the CVC-related DVTs completely resolved. Median age at the time of initial insertion of a CVC was 1.0 years (range 0.02-6.7 years). Median duration of CVC placement was 6.4 years (range 3.3-15.5 years). Only 4/13 boys with DVTs had clinical evidence of upper venous system obstruction. Only one boy, who did not develop a DVT, had a low protein C level. CONCLUSIONS: CVC-related DVTs occur in the majority of boys with hemophilia who have CVCs inserted for a prolonged period of time. Annual screening with imaging is recommended for boys with CVCs in place for >/= 3 years. Consideration should be given to removing CVCs as soon as peripheral venous access is feasible.