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- Berntorp, Erik, et al.
(författare)
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Centraliserad vård grundläggande i vårdprogram för blödarsjuka
- 1999
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Ingår i: Läkartidningen. - 0023-7205. ; 96:15, s. 1849-1852
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Tidskriftsartikel (refereegranskat)abstract
- Haemophilia is a rare and potentially life-threatening disease. In Sweden, with a population of approximately 8.5 million, about 350 people suffer from the more severe forms of haemophilia or von Willebrand disease. Meticulous management is important if the patients are to be spared chronic disability and serious treatment complications. The disease is lifelong and affects psychosocial aspects of life among patients and their families. With the help of a grant from the Swedish Board of Halth and Welfare, a care programme has been designed to guarantee Swedish haemophiliacs comparable and optimal care. The programme has been drawn up by representatives of the three haemophilia centres in Sweden (at University Hospital, Malmo, Sahlgrenska University Hospital, Gothenburg, and Karolinska Hospital, Stockholm) in co-operation with the World Federation of National Haemophilia Organisations. To ensure optimal individual application of the programme, individualised management strategies and patient information leaflets have been prepared.
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| 2. |
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| 4. |
- Kihlberg, Kristina, et al.
(författare)
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Factor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications
- 2022
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Ingår i: Thrombosis Research. - : Elsevier BV. - 0049-3848 .- 1879-2472. ; 217, s. 22-32
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: The development of inhibitory antibodies (inhibitors) in persons with hemophilia B (PwHB) causes significant morbidity. Data on the impact of the F9 variant and immune tolerance induction (ITI) outcome are limited.The aim of this study was to investigate the presence of neutralizing and non-neutralizing antibodies (NNA) in severe hemophilia B (HB) and to evaluate ITI outcome and complications in relation to the pathogenic F9 variant.Materials and methods: Persons with severe HB in the Nordic countries were enrolled and information on F9 variants, inhibitors, ITI and complications were collected. Analyses of anti-FIX antibodies with a fluorescence -immunoassay (xFLI) and an ELISA method were conducted.Results: Seventy-nine PwHB were enrolled. Null variants were seen in 33 (42 %) PwHB and 12 (15 %) had a current or former inhibitor. Eleven (92 %) of the inhibitor patients had experienced allergic manifestations and three (25 %) nephrotic syndrome. Of 10 PwHB with at least one ITI attempt, eight (80 %) were considered tolerant at enrolment. Immunosuppression was included in seven of eight successful or partially successful at-tempts. Five PwHB had at least one ITI failure before a successful or partially successful ITI. No NNA could be identified.Conclusion: A high proportion of severe F9 gene defects among persons with severe HB in the Nordic countries may explain the observed relatively high prevalence of inhibitors. ITI success was independent of the F9 variant and attained despite allergic manifestations and previous ITI failures. Inclusion of immunosuppression tenta-tively enhances the chances of ITI success. No NNA were observed.
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| 5. |
- Olsson, A, et al.
(författare)
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Association between bleeding tendency and health-related quality of life in carriers of moderate and severe haemophilia.
- 2015
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Ingår i: Haemophilia : the official journal of the World Federation of Hemophilia. - : Wiley. - 1365-2516. ; 21:6
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Tidskriftsartikel (refereegranskat)abstract
- Carriers of severe and moderate haemophilia A and B are expected to have approximately 50% of the normal level of factors VIII and IX. However, due to X chromosome inactivation in early embryonic life, factor levels can vary considerably. This can lead to increased bleeding tendency, which may in turn impact on health-related quality of life (HRQOL).
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| 6. |
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| 7. |
- Peyvandi, Flora, et al.
(författare)
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Evolution of replacement therapy for von Willebrand disease : From plasma fraction to recombinant von Willebrand factor
- 2019
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Ingår i: Blood Reviews. - : Elsevier BV. - 0268-960X. ; 38
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Forskningsöversikt (refereegranskat)abstract
- The diagnosis and treatment of von Willebrand disease (VWD) are challenging, in part because patients exhibit a wide range of bleeding patterns and manifestations (e.g. epistaxis, gingival bleeding, heavy menstrual bleeding, gastrointestinal bleeds, postoperative bleeding, hemarthroses) and in part because many tests are required to make an accurate diagnosis. Factor replacement therapies for VWD are the mainstay of treatment for patients who do not respond to desmopressin. They have gradually evolved from crude preparations of plasma proteins to plasma-derived concentrates containing both von Willebrand factor (VWF) and factor VIII (FVIII). However, varying amounts and quality of VWF and varying content of FVIII have contributed to the lack of a standardized approach to replacement therapy. More recently, the treatment of VWD has undergone a slow yet significant change from plasma-derived VWF/FVIII concentrates with VWF:ristocetin cofactor (RCo)/FVIII ratios ≤1, to those with VWF:RCo/FVIII ratios >10, to a recombinant VWF. This article reviews the evolution of factor replacement therapy for patients with VWD that has occurred over the last several decades. The availability of a greater variety of factor replacement therapies poses a challenge in terms of a standard algorithm of care but may help overcome the limitations of earlier treatments and allow treatment personalization according to individual patient needs.
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| 8. |
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| 9. |
- Holm, Elena, et al.
(författare)
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Cardiovascular disease-related hospitalization and mortality among persons with von Willebrand disease : A nationwide register study in Sweden
- 2019
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Ingår i: Haemophilia. - : Wiley. - 1351-8216. ; 25:1, s. 109-115
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: It has been hypothesized that persons with von Willebrand disease (VWD) may be protected against arterial thrombosis despite having atherosclerosis. Aim: To calculate a nationwide estimate of the absolute and comparative burden of cardiovascular disease (CVD) hospitalization and mortality among persons with VWD using birthdate and sex-matched comparisons from the general population in Sweden. Methods: Persons with VWD regardless of the type and severity, diagnosed by a medical doctor, who lived in Sweden for some time during the observation period 1987 through 2008 were included. For each participant with VWD, up to five randomly selected birthdate- and sex-matched persons from general population were selected as controls. Results: A total of 2790 participants with VWD including 888 male and 1902 female subjects and 13 938 controls were included. Overall, the hazard of CVD-related hospitalization was 1.3-fold (95% CI: 1.1, 1.5) among participants with VWD after adjusting for sex, birthdate, diabetes and cancer. However, they had a 0.4-fold (95% CI: 0.3, 0.6) hazard of CVD-related mortality compared to general population sample. Conclusions: In this nationwide, long-term register study with individually matched controls, we have been able to show that persons with VWD have a higher hospitalization rate due to CVD events. However, the mortality rates appear lower than in the control population. The latter finding is consistent with previous studies and indicates a protective effect of the clotting factor deficiency inherited with VWD.
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| 10. |
- Ljung, Rolf, et al.
(författare)
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Care of the Child with Hemophilia
- 2010
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Ingår i: Textbook of Hemophilia, 2nd Edition. - Oxford, UK : Wiley-Blackwell. - 9781405169141 ; , s. 127-132
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Bokkapitel (refereegranskat)
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