@article{PruggerHeidrichWellmannetal.2012, author = {Prugger, Christof and Heidrich, Jan and Wellmann, J{\"u}rgen and Dittrich, Ralf and Brand, Stefan-Martin and Telgmann, Ralph and Breithardt, G{\"u}nter and Reinecke, Holger and Scheld, Hans and Kleine-Katth{\"o}fer, Peter and Heuschmann, Peter U. and Keil, Ulrich}, title = {Trends in Cardiovascular Risk Factors Among Patients With Coronary Heart Disease : Results From the EUROASPIRE I, II, and III Surveys in the M{\"u}nster Region}, series = {Deutsches {\"A}rzteblatt International}, volume = {109}, journal = {Deutsches {\"A}rzteblatt International}, number = {17}, doi = {10.3238/arztebl.2012.0303}, pages = {303-U21}, year = {2012}, abstract = {Background: Target values for cardiovascular risk factors in patients with coronary heart disease (CHD) are stated in guidelines for the prevention of cardiovascular disease. We studied secular trends in risk factors over a 12-year period among CHD patients in the region of Munster, Germany. Methods: The cross-sectional EUROASPIRE I, II and III surveys were performed in multiple centers across Europe. For all three, the Munster region was the participating German region. In the three periods 1995/96, 1999/2000, and 2006/07, the surveys included (respectively) 392, 402 and 457 <= 70-year-old patients with CHD in Munster who had sustained a coronary event at least 6 months earlier. Results: The prevalence of smoking remained unchanged, with 16.8\% in EUROASPIRE I and II and 18.4\% in EUROASPIRE III (p=0.898). On the other hand, high blood pressure and high cholesterol both became less common across the three EUROASPIRE studies (60.7\% to 69.4\% to 55.3\%, and 94.3\% to 83.4\% to 48.1\%, respectively; p<0.001 for both). Obesity became more common (23.0\% to 30.6\% to 43.1\%, p<0.001), as did treatment with antihypertensive and lipid-lowering drugs (80.4\% to 88.6\% to 94.3\%, and 35.0\% to 67.4\% to 87.0\%, respectively; p<0.001 for both). Conclusion: The observed trends in cardiovascular risk factors under-score the vital need for better preventive strategies in patients with CHD.}, language = {en} } @article{LendersWeidemannKurschatetal.2016, author = {Lenders, Malte and Weidemann, Frank and Kurschat, Christine and Canaan-K{\"u}hl, Sima and Duning, Thomas and Stypmann, J{\"o}rg and Schmitz, Boris and Reiermann, Stefanie and Kr{\"a}mer, Johannes and Blaschke, Daniela and Wanner, Christoph and Brand, Stefan-Martin and Brand, Eva}, title = {Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant}, series = {Orphanet Journal of Rare Diseases}, volume = {11}, journal = {Orphanet Journal of Rare Diseases}, number = {54}, doi = {10.1186/s13023-016-0441-z}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-166559}, year = {2016}, abstract = {Background Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma. Methods To determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in comparison to 58 FD patients with other missense mutations. Results p.A143T patients suffering from stroke/ transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD. However, most male p.A143T patients presented with significant residual GLA activity (~50 \% of reference), which was associated with normal lyso-Gb3 levels. Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations. Two tested female p.A143T patients with stroke/TIA did not show skewed X chromosome inactivation. No accumulation of neurologic events in family members of p.A143T patients with stroke/transient ischemic attacks was observed. Conclusions We conclude that GLA p.A143T seems to be most likely a neutral variant or a possible modifier instead of a disease-causing mutation. Therefore, we suggest that p.A143T patients with stroke/transient ischemic attacks of unknown etiology should be further evaluated, since the diagnosis of FD is not probable and subsequent ERT or chaperone treatment should not be an unreflected option.}, language = {en} } @article{LendersHennermannKurschatetal.2016, author = {Lenders, Malte and Hennermann, Julia B. and Kurschat, Christine and Rolfs, Arndt and Canaan-K{\"u}hl, Sima and Sommer, Claudia and {\"U}{\c{c}}eyler, Nurcan and Kampmann, Christoph and Karabul, Nesrin and Giese, Anne-Katrin and Duning, Thomas and Stypmann, J{\"o}rg and Kr{\"a}mer, Johannes and Weidemann, Frank and Brand, Stefan-Martin and Wanner, Christoph and Brand, Eva}, title = {Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease}, series = {Orphanet Journal of Rare Diseases}, volume = {11}, journal = {Orphanet Journal of Rare Diseases}, number = {88}, doi = {10.1186/s13023-016-0473-4}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-166543}, year = {2016}, abstract = {Background The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Methods Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry centers were retrospectively analyzed. Clinical presentation and laboratory data, including plasma lyso-Gb3 levels were assessed. Results Fifty-five percent of females were on enzyme replacement therapy (ERT), according to recent European FD guidelines. Thirty-three percent of females were untreated although criteria for ERT initiation were fulfilled. In general, the presence of left ventricular hypertrophy (LVH) seemed to impact more on ERT initiation than impaired renal function. In ERT-na{\"i}ve females RAAS blockers were more often prescribed if LVH was present rather than albuminuria. Affected females with missense mutations showed a similar disease burden compared to females with nonsense mutations. Elevated plasma lyso-Gb3 levels in ERT-na{\"i}ve females seem to be a marker of disease burden, since patients showed comparable incidences of organ manifestations even if they were ~8 years younger than females with normal lyso-Gb3 levels. Conclusion The treatment of the majority of females with FD in Germany is in line with the current European FD guidelines. However, a relevant number of females remain untreated despite organ involvement, necessitating a careful reevaluation of these females.}, language = {en} }