Erik Berntorp

Bio: Erik Berntorp is an academic researcher from Lund University. The author has contributed to research in topics: Haemophilia & Haemophilia A. The author has an hindex of 63, co-authored 389 publications receiving 14912 citations. Previous affiliations of Erik Berntorp include Malmö University & Manchester Royal Infirmary.

Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B

Abstract: In Sweden, prophylactic treatment of boys with severe haemophilia has been practised since 1958 in an attempt to convert the disease from a severe to a milder form. The present study population consisted of 60 severe haemophiliacs (52 A, 8 B), aged 3-32 years. Treatment is started when the boys are 1-2 years of age, the regimens used being 24-40 IU F VIII kg-1 three times weekly in haemophilia-A cases (i.e. greater than 2000 IU kg-1 annually) and 25-40 IU F IX kg-1 twice weekly in haemophilia-B cases. The orthopaedic and radiological joint scores (maximum scores of 90 and 78, respectively) are evaluated as recommended by the World Federation of Haemophilia. Of those subjects aged 3-17 years, 29 out of 35 individuals had joint scores of zero. The oldest group had only minor joint defects. The VIII:C and IX:C concentrations had usually not fallen below 1% of normal. All 60 patients are able to lead normal lives. In conclusion, it appears to be possible to prevent haemophilic arthropathy by giving effective continuous prophylaxis from an early age, and preventing the VIII:C or IX:C concentration from falling below 1% of normal.

Impact, Diagnosis and Treatment of von Willebrand Disease*

Abstract: Von Willebrand disease (VWD) is one of the most common inherited bleeding diseases. Based on a conservative estimate of prevalence (at least 100 per million persons) (1-7) and a population of 5.8 billion, there are at least 580,000 persons with symptomatic VWD worldwide who could benefit from appropriate diagnosis followed by replacement or pharmacological therapy. Approximately 80% of these persons live in the developing world. Because severe menorrhagia is common in VWD, the disease tends to cause greater morbidity in women of childbearing age. Consequently, VWD impairs the health of a critical segment of the population during a time of life when the demands of work and family are the greatest.

Haemophilia prophylaxis in young patients–a long‐term follow‐up

Abstract: Objectives. To review long-term prophylactic factor treatment in young patients with severe haemophilia A and B, focusing on the orthopaedic and radiological outcome. Design. We received 34 patients with severe haemophilia A (n=29) and B (n=5), aged 7–22 years. Age at start of treatment was 1–4.5 years. Dosages of factor concentrate (F VIII and F IX, respectively) were 25–40 IU/kg body weight, three times a week for haemophilia A and twice a week for haemophilia B. The patients had been checked annually over a 5-year period (1990–95). Orthopaedic and radiological joint scores were evaluated according to recommendations by the World Federation of Haemophilia. Setting. All results were obtained at the Department for Coagulation Disorders, University of Lund, Malmo University Hospital, Malmo, Sweden. Results. Orthopaedic and radiological joint scores were found to have remained unchanged during follow-up in almost all patients and to be still zero (i.e. no unaffected joints) in 79% (n=27) of the patients. Conclusion. There is a growing international consensus haemophilic arthropathy can be prevented by administering early high-dose prophylaxis. The results of the present investigation strongly support this opinion.

The relationship between social support and physiological processes: a review with emphasis on underlying mechanisms and implications for health.

Abstract: In this review, the authors examine the evidence linking social support to physiological processes and characterize the potential mechanisms responsible for these covariations. A review of 81 studies revealed that social support was reliably related to beneficial effects on aspects of the cardiovascular, endocrine, and immune systems. An analysis of potential mechanisms underlying these associations revealed that (a) potential health-related behaviors do not appear to be responsible for these associations; (b) stress-buffering effects operate in some studies; (c) familial sources of support may be important; and (d) emotional support appears to be at least 1 important dimension of social support. Recommendations and directions for future research include the importance of conceptualizing social support as a multidimensional construct, examination of potential mechanisms across levels of analyses, and attention to the physiological process of interest.

Social Support and Health: A Review of Physiological Processes Potentially Underlying Links to Disease Outcomes

Abstract: Social support has been reliably related to lower rates of morbidity and mortality. An important issue concerns the physiological mechanisms by which support influences such health endpoints. In this review, I examine evidence linking social support to changes in cardiovascular, neuroendocrine, and immune function. Consistent with epidemiological evidence, social support appears to be related to more positive “biological profiles” across these disease-relevant systems. Recent research on immune-mediated inflammatory processes is also starting to provide data on more integrative physiological mechanisms potentially linking social support to health. The implications of these links, along with future research directions are discussed.

Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response

Abstract: We have previously shown that a single portal vein infusion of a recombinant adeno-associated viral vector (rAAV) expressing canine Factor IX (F.IX) resulted in long-term expression of therapeutic levels of F.IX in dogs with severe hemophilia B. We carried out a phase 1/2 dose-escalation clinical study to extend this approach to humans with severe hemophilia B. rAAV-2 vector expressing human F.IX was infused through the hepatic artery into seven subjects. The data show that: (i) vector infusion at doses up to 2 x 10(12) vg/kg was not associated with acute or long-lasting toxicity; (ii) therapeutic levels of F.IX were achieved at the highest dose tested; (iii) duration of expression at therapeutic levels was limited to a period of approximately 8 weeks; (iv) a gradual decline in F.IX was accompanied by a transient asymptomatic elevation of liver transaminases that resolved without treatment. Further studies suggested that destruction of transduced hepatocytes by cell-mediated immunity targeting antigens of the AAV capsid caused both the decline in F.IX and the transient transaminitis. We conclude that rAAV-2 vectors can transduce human hepatocytes in vivo to result in therapeutically relevant levels of F.IX, but that future studies in humans may require immunomodulation to achieve long-term expression.

Guidelines for the management of hemophilia.

Abstract: Hemophilia is a rare disorder that is complex to diagnose and to manage. These evidence-based guidelines offer practical recommendations on the diagnosis and general management of hemophilia, as well as the management of complications including musculoskeletal issues, inhibitors, and transfusion-transmitted infections. By compiling these guidelines, the World Federation of Hemophilia aims to assist healthcare providers seeking to initiate and/or maintain hemophilia care programs, encourage practice harmonization around the world and, where recommendations lack adequate evidence, stimulate appropriate studies.