R. Schutgens - Academia.edu (original) (raw)
Papers by R. Schutgens
Journal of Inherited Metabolic Disease, 1994
Mulibrey nanism (MN) (McKusick 253250) is a rare autosomal recessive disorder described worldwide... more Mulibrey nanism (MN) (McKusick 253250) is a rare autosomal recessive disorder described worldwide, but especially in Finnish patients . Clinical characteristics of the disorder are severe growth retardation, facial abnormalities, hepatomegaly, muscular hypotonia, peculiar voice, yellowish dots and pigment dispersion in the ocular fundi and raised venous pressure due to pericardial constriction. Some of these clinical features, such as cranial dysmorphia, muscular hypotonia and the eye abnormalities, overlap with Zellweger syndrome . For this reason we analysed specific peroxisomal functions in blood and fibroblasts of two Finnish MN patients, aged 13 and 6 years, respectively.
Acute coronary syndromes in persons with hemophilia-comments on ESC guidelines by the ADVANCE working group
Blood Coagulation Aggravates Joint Damage after an Experimental Hemorrhage in a Canine Knee
Haemophilia, 2009
Currently, efficacy of a new factor concentrate is mostly judged by its ability to achieve haemos... more Currently, efficacy of a new factor concentrate is mostly judged by its ability to achieve haemostasis after a bleeding episode. However, in patients on prophylaxis, the effectiveness in preventing bleeds, and thus joint damage, is most important. An albumin-free recombinant factor VIII (FVIII) concentrate was introduced in the Netherlands in 2004. In this study, the efficacy of a new recombinant plasma/albumin-free FVIII concentrate (rAHF-PFM, AdvateÒ) was assessed by comparing bleeding frequency and factor consumption before and after switching to the new product, on both prophylactic and on-demand treatment. Eighty-two previously treated haemophilia A patients with at least 1-year clinical follow-up were included in this study. Data on 410 patient-years were analysed, including 165 patient-years on other clotting factor products, and 245 patient-years on the new concen-trate. In total, 19 628 368 IU of other factor concentrates were administered, to treat 839 bleeds, including 578 joint bleeds and cover 104 years of prophylactic treatment. For rAHF-PFM 33 082 250 IU FVIII, were used to treat 1144 bleeds, including 734 joint bleeds and cover 175 years of prophylactic treatment. No inhibitors, seroconversions or other serious adverse events were observed. Annual FVIII consumption per kg and annual number of joint bleeds before and after switching to the new albumin-free recombinant factor concentrate were similar in all patients. In conclusion, rAHF-PFM is equally effective as other clotting factor concentrates for prophylactic treatment in severe haemophilia.
Cardiac catheterization and intervention in haemophilia patients: prospective evaluation of the 2009 institutional guideline
Haemophilia, 2013
Ageing haemophilia patients are increasingly confronted with ischaemic heart disease (IHD). Treat... more Ageing haemophilia patients are increasingly confronted with ischaemic heart disease (IHD). Treatment is complex because of the delicate equilibrium between bleeding and thrombosis. In 2009, we developed an institutional guideline on how to treat IHD in this patient population. The aim of this study was to evaluate feasibility and safety of this guideline. Haemophilia patients who underwent coronary angiography or percutaneous coronary intervention between January 2009 and June 2012 were included in the current case series. Nine diagnostic or therapeutic cardiac catheterizations were performed in six haemophilia patients. One patient with moderate haemophilia B was included, whereas the other patients had mild haemophilia A. In six of nine procedures, access to the circulation was gained via the radial artery. Only bare-metal stents were implanted, after which dual antiplatelet treatment was given for at least 4 weeks. During cardiac catheterization/intervention and dual antiplatelet treatment, clotting factor levels were corrected. No thrombotic or clinically relevant bleeding complications occurred. In one patient, a low-titre inhibitor recurred 10 months after catheterization. In-stent restenosis was diagnosed in one patient. This case series indicates that treatment according to the guideline is feasible and safe. Furthermore, based on the case series and developments in new guidelines for non-haemophilic patients with IHD, some adjustments on the 2009 guideline are proposed.
Journal of Inherited Metabolic Disease, 1994
Mulibrey nanism (MN) (McKusick 253250) is a rare autosomal recessive disorder described worldwide... more Mulibrey nanism (MN) (McKusick 253250) is a rare autosomal recessive disorder described worldwide, but especially in Finnish patients . Clinical characteristics of the disorder are severe growth retardation, facial abnormalities, hepatomegaly, muscular hypotonia, peculiar voice, yellowish dots and pigment dispersion in the ocular fundi and raised venous pressure due to pericardial constriction. Some of these clinical features, such as cranial dysmorphia, muscular hypotonia and the eye abnormalities, overlap with Zellweger syndrome . For this reason we analysed specific peroxisomal functions in blood and fibroblasts of two Finnish MN patients, aged 13 and 6 years, respectively.
Acute coronary syndromes in persons with hemophilia-comments on ESC guidelines by the ADVANCE working group
Blood Coagulation Aggravates Joint Damage after an Experimental Hemorrhage in a Canine Knee
Haemophilia, 2009
Currently, efficacy of a new factor concentrate is mostly judged by its ability to achieve haemos... more Currently, efficacy of a new factor concentrate is mostly judged by its ability to achieve haemostasis after a bleeding episode. However, in patients on prophylaxis, the effectiveness in preventing bleeds, and thus joint damage, is most important. An albumin-free recombinant factor VIII (FVIII) concentrate was introduced in the Netherlands in 2004. In this study, the efficacy of a new recombinant plasma/albumin-free FVIII concentrate (rAHF-PFM, AdvateÒ) was assessed by comparing bleeding frequency and factor consumption before and after switching to the new product, on both prophylactic and on-demand treatment. Eighty-two previously treated haemophilia A patients with at least 1-year clinical follow-up were included in this study. Data on 410 patient-years were analysed, including 165 patient-years on other clotting factor products, and 245 patient-years on the new concen-trate. In total, 19 628 368 IU of other factor concentrates were administered, to treat 839 bleeds, including 578 joint bleeds and cover 104 years of prophylactic treatment. For rAHF-PFM 33 082 250 IU FVIII, were used to treat 1144 bleeds, including 734 joint bleeds and cover 175 years of prophylactic treatment. No inhibitors, seroconversions or other serious adverse events were observed. Annual FVIII consumption per kg and annual number of joint bleeds before and after switching to the new albumin-free recombinant factor concentrate were similar in all patients. In conclusion, rAHF-PFM is equally effective as other clotting factor concentrates for prophylactic treatment in severe haemophilia.
Cardiac catheterization and intervention in haemophilia patients: prospective evaluation of the 2009 institutional guideline
Haemophilia, 2013
Ageing haemophilia patients are increasingly confronted with ischaemic heart disease (IHD). Treat... more Ageing haemophilia patients are increasingly confronted with ischaemic heart disease (IHD). Treatment is complex because of the delicate equilibrium between bleeding and thrombosis. In 2009, we developed an institutional guideline on how to treat IHD in this patient population. The aim of this study was to evaluate feasibility and safety of this guideline. Haemophilia patients who underwent coronary angiography or percutaneous coronary intervention between January 2009 and June 2012 were included in the current case series. Nine diagnostic or therapeutic cardiac catheterizations were performed in six haemophilia patients. One patient with moderate haemophilia B was included, whereas the other patients had mild haemophilia A. In six of nine procedures, access to the circulation was gained via the radial artery. Only bare-metal stents were implanted, after which dual antiplatelet treatment was given for at least 4 weeks. During cardiac catheterization/intervention and dual antiplatelet treatment, clotting factor levels were corrected. No thrombotic or clinically relevant bleeding complications occurred. In one patient, a low-titre inhibitor recurred 10 months after catheterization. In-stent restenosis was diagnosed in one patient. This case series indicates that treatment according to the guideline is feasible and safe. Furthermore, based on the case series and developments in new guidelines for non-haemophilic patients with IHD, some adjustments on the 2009 guideline are proposed.