No abstract

Objective In countries with low factor concentrate consumption, disabling joint disease remains the major morbidity in patients with haemophilia. The objective of the present analysis is to express the trend and profile of invasive orthopaedic interventions in our country with low usage of factor replacement, lacking the prophylaxis program until recent years. Patients and Methods This retrospective descriptive study was conducted in our university centre in Timisoara with long-lasting experience in haemophilia care, which succeeded in developing an exceptionally valuable genuine comprehensive inter-institutional cooperation. This study refers to 115 invasive interventions performed on 97 patients: 83 with haemophilia A, 10 with haemophilia B and 4 with von Willebrand disease in the period of 2001 to 2017; 17 of them had inhibitors, 5 developing inhibitors after the intervention. Results and Discussion The cohort of patients consisted mostly of young adults, aged between 7 and 49 years. The vast majority of them, 91.3% of the patients, had the burden of severe chronic arthropathy. This was the reason for 95 interventions, with programmed solution. In 20 cases the cause of invasive interventions was emergency. Knee and hip replacement represented 28% of the major interventions. The complications we encountered were excessive bleeding (12.2%), infection (13%) and inhibitor development (4.3%). Conclusion Surgery is a demanding intervention in patients with haemophilia, which unfortunately cannot be ignored in our country. Hopefully, the improved availability and accessibility to replacement therapy will eliminate the necessity of these interventions, optimizing the outcomes for the next generations.

SummaryHaemophilic arthropathy is a defining feature and a debilitating condition of persons with haemophilia (PwH) in low resource countries. Orthopaedic surgery is unavoidable for patients with high occurrence of joint damage. Aims: We aimed to evaluate the spectrum and outcome of invasive orthopaedic therapies in PwH and von Willebrand diseases (VWD). Patients and methods: Our descriptive observational retrospective study included 131 invasive surgical procedures, performed on 76 consecutive patients, most of them (93.4%) with severe disease, treated in Timisoara's Haemophilia Center over a period of 12 years; 17.1% had pre-operation anti-FVIII inhibitors. Invasive elective procedures were predominant (90.8%) as compared to emergency measures (9.2%); according to their invasiveness, 20.6% of interventions were major, 44.3% intermediate and 35.1% minor. Results were good in the majority of cases; significantly reduced joint bleed rate and pain score were the most consistent achievements. The greatest proportion of complications occurred after major (66.7%), compared to moderate (25.6%) and minor (7.7%) interventions. The main threatening complication was the development (3.8%) or increase (4.6%) of inhibitor titer. Local bacterial infections and wound dehiscence complicated the evolution in 4.6% and 0.8 % of cases, respectively; we noticed no blood-borne infections or thrombotic accidents. Low dosage (10.7%) and short duration of substitution (21.4%) led to increased post-surgical bleeding and post-haemorrhagic anaemia. Conclusions: Surgery is a highly demanding intervention in haemophilia, which cannot be ignored in a low resource country. It represents a life or limb-saving and quality of life-improving measure.

Introduction: Lupus anticoagulant (LAC) belongs to a heterogeneous group of antibodies directed against negatively charged phospholipid-binding proteins, inhibiting phospholipid-dependent reactions. We assessed the frequency, etiological background, clinical and biological expression as well as the appropriate management and outcome of LAC in a pediatric population. Patients and methods: We included 19 pediatric patients diagnosed with a positive LAC test during a period of 1 year. LAC detection was carried out according to the ISTH/SCC guidelines 2012. Coagulometric assays were performed in order to check for coagulation factor activities. The presence of specific inhibitors has been tested by the Bethesda assay. Results: LAC was positive in 0.4% of the patients monitored for increased activated partial thromboplastin time (aPTT) during the study period of 1 year. In contrast to the asymptomatic clinical image presented by the majority of our patients, the biological picture was dominated by an elevated aPTT (79 %), the aPTT ratio correlating significantly with the strength of LAC. In 58 % of the patients LAC became negative within 12 weeks, in another 4 (21%) patients within 20 weeks, whereas in 4 (21%) patients LAC remained positive throughout the follow-up. Conclusion: Albeit usually innocent in asymptomatic patients, LAC needs to be seriously taken into consideration from the diagnostic point of view in order to avoid dangerous therapeutic attitudes..

SummaryA number of 513 consecutive patients (494-haemophilia A and 19-haemophilia B) from eight haemophilia treatment centers have been investigated with Bethesda assay for the presence of factor VIII or IX inhibitors. The overall prevalence of inhibitors was 15.20%, 18.48% in severe, 5.60% in moderate and 12.24% in mild forms. The prevalence was higher than reported in most of the western countries. The age at start of substitution (p = 0.9775), the frequent switching of factor concentrates (p = 0.8931) were not relevant factors for the development of inhibitors. It is worth to be mentioned the unexpectedly occurrence of inhibitors in prior inhibitor negative (6/72) patients (during surgical interventions) probably due to their previous scarce substitution, occurrence which seems not being connected with the continuous infusion modality of factor VIII administration (p = 0.8341). In controversial situations, in the field of low titer (≤1 BU/ml) inhibitors for a reliable interpretation of the results the performance of recovery index and half-life time assessment of FVIII/IX was undertaken.