Spontaneous disappearance of high titre factor VIII inhibitor 15 years after unsuccessful ITI.

The most serious complication of haemophilia A is development of a high-titre factor VIII (FVIII) inhibitor which renders the patient unresponsive to FVIII replacement. Bleeding complications can only be controlled using FVIII-inhibitor bypassing agents but their effect is less certain. The ultimate goal is to eliminate the inhibitor by immune tolerance induction therapy (ITI) using daily high doses of FVIII. The success rate of ITI using various protocols is between 56 and 79% (1, 2). If ITI is unsuccessful, the inhibitor usually persists throughout life. We report on a patient with a high titre FVIII inhibitor that persisted after ITI but spontaneously disappeared 15 years later.

Atorvastatin improves blood rheology in patients with familial hypercholesterolemia (FH) on long-term LDL apheresis treatment.

To determine the effect of atorvastatin on blood rheology in patients with familial hypercholesterolemia (FH) on regular LDL apheresis, we prospectively studied the rheological variables fibrinogen, plasma viscosity, red cell aggregation, whole blood viscosity, hematocrit and platelet aggregation in 12 patients (two homozygous, ten heterozygous) before and during treatment with atorvastatin. Baseline values of red cell aggregation and whole blood viscosity were increased in FH patients on regular LDL apheresis compared with healthy controls (P<0.05), whereas fibrinogen, plasma viscosity and hematocrit were similar in the two groups. Treatment with atorvastatin reduced red cell aggregation (P<0.01), whole blood viscosity (P<0.01), plasma viscosity (P<0.01) and platelet aggregation (P<0.05), but caused a slight increase in plasma fibrinogen (by 5%; P<0.01). Our findings suggest that atorvastatin improves blood rheology in patients with FH on regular LDL-apheresis. This improvement in blood flow properties may contribute to the well-known beneficial effects of atorvastatin on cardiovascular risk in patients with severe hyperlipidemia and atherosclerotic vascular disease.

Hyperhomocysteinemia in children with juvenile idiopathic arthritis is not influenced by methotrexate treatment and folic acid supplementation: a pilot study.

OBJECTIVE: Our first objective was to compare plasma total homocysteine (tHcy) concentrations in juvenile idiopathic arthritis (JIA) patients requiring methotrexate (MTX) treatment and healthy children. Our second aim was to evaluate the influence of low-dose (10-15 mg/m2/week) MTX treatment combined with folic acid supplementation (1 mg/d) or placebo on tHcy concentrations in JIA patients. METHODS: In 17 JIA patients and 17 age- and sex-matched healthy children, baseline tHcy concentrations were measured. When MTX treatment was initiated, JIA patients were randomly assigned to folic acid 1 mg/d/p.o. followed by placebo (8 weeks each) or vice versa. Blood samples for measurement of tHcy, vitamin B6, B12 and folate were taken after 4 weeks, 12 weeks and 20 weeks of treatment. RESULTS: 1) In the healthy children the mean tHcy concentration was 6.3 +/- 1.68 mumol/l as compared to 9.99 +/- 5.17 mumol/l in JIA patients (p < 0.04). At baseline, 5/17 JIA patients had tHcy concentrations > 10.5 mumol/l, the 99th percentile for teenagers. 3/5 patients even exceeded the upper normal level for adults (tHcy > or = 15 mumol/l). MTX treatment did not result in a significant increase of tHcy and folic acid supplementation had no significant impact on tHcy levels. CONCLUSION: This pilot study shows that patients with JIA requiring MTX treatment have significantly elevated baseline plasma tHcy concentrations compared to age- and sex-matched healthy controls. No significant impact of MTX and folate supplementation on tHcy concentration was found.

Longitudinal growth in HIV-negative boys with haemophilia.

UNLABELLED: It has been shown that HIV-positive haemophilic children develop growth retardation. As not only the HIV infection but also other disease-related factors might compromise growth in these children, growth data were analysed in a longitudinal cross-sectional manner in 84 HIV-negative haemophilic patients from two university clinics. A total of 2-24 height and weight measurements (median 6) were recorded in each patient resulting in 683 single values collected between 1977-1995. Height SDS of all haemophilic boys was -0.31 +/- 2.13 (mean +/- SD, NS versus 0) and body mass index SDS was 0.21 +/- 3.49 (mean SD, NS versus 0) at first measurement and remained unchanged throughout the observation period. Neither height nor body mass index differed with respect to the severity of haemophilia (mild/moderate/severe) or the study centre (Vienna/Prague). CONCLUSION: Growth in HIV-negative patients with haemophilia is not affected in spite of the immunological abnormalities attributed to the substitution therapy or the bleeding episodes in the joints with the potential effect on the growth plate.

Incidence of pediatric rheumatic diseases in a regional population in Austria.

OBJECTIVE: To establish a population based disease registry for pediatric rheumatology in a defined population of Austria; to describe the demographic and diagnostic classification of children referred to pediatric rheumatology clinics; and to estimate the incidence of pediatric rheumatic diseases in Eastern Austria. METHODS: For 2 years (1997-98) all pediatric rheumatology centers in the area contributed data on all new cases to a prospective multicenter patient registry. Diagnostic criteria defined the rheumatic disease cases, determined by a pediatric rheumatologist, and record linkage was carried out to avoid duplication of subjects. RESULTS: Rheumatic conditions were diagnosed in 107 subjects. Juvenile rheumatoid arthritis (JRA) was the most frequently encountered rheumatic condition (49.5%), followed by spondyloarthropathy (SpA, 33.6%) and systemic lupus erythematosus (SLE, 5.6%). The mean annual incidence of JRA, SpA, and SLE among children referred to pediatric rheumatology centers was 4.28, 2.9, and 0.48 per 100,000 children at risk, respectively. CONCLUSION: Establishment of a population based disease registry led to collection of descriptive epidemiologic data on a defined regional cohort of children with rare disorders. Our registry will provide data on pediatric rheumatic diseases in a European population and will allow more accurate comparisons between populations for future research. Our data also indicate that more resources should be designated for the care of pediatric rheumatic diseases in view of the relatively high incidences of these diseases.