PPT-Familial Hypercholesterolemia Foundation

Patient Engagement and the Assessment of Value Cat Davis Ahmed Director of Outreach Where is the Value in working with Advocacy Organizations PROMOTE AWARENESS OF FH at both the provider and patient . These occur in both humans and animals and include BSE There are fewer than 64257ve new cases of familial CJD occurring in the UK each year Like the other forms of CJD familial CJD is characterised by dementia mental decline with symptoms such as me KEY POINTS . FH is an autosomal dominant genetic condition that leads to severe elevations in cholesterol levels.. Average LDL is 220mg/dl in . HeFH. and > 500mg/dl in . HoFH. . Lifetime burden of high cholesterol leads to huge increased risk of cardiovascular disease.. Hypercholesterolaemia. Dr. Rosemary Croft. 15. th. . May 2013. Familial . Hypercholesterolaemia. 1 in 500 affected. Genetic – autosomal dominant. Untreated 50 develop CVD by age 55. DNA test costs £320. Developed by . Ms. . Shawna . Morrison, Dr. Judith . Allanson. and Dr. June Carroll. Last updated . October 2016. Disclaimer. This presentation is for educational purposes only and should not be used as a substitute for clinical judgement. GEC-KO aims to aid the practicing clinician by providing informed opinions regarding genetic services that have been developed in a rigorous and evidence-based manner. Physicians must use their own clinical judgement in addition to published articles and the information presented herein. GEC-KO assumes no responsibility or liability resulting from the use of information contained herein. . MPNs. and MDS. Dr Amy Jones. Wessex Regional Genetics Laboratory, Salisbury. Faculty of Medicine, University of Southampton. Penetrance. Allele frequency. High. Intermediate. Low. Very rare. Rare. Uncommon. What’s in the Name? . Lipase D deficiency. Lipoprotein lipase deficiency (LPLD). Chylomicronemia syndrome. Chylomicronemia, familial. Familial chylomicronemia. Hyperchylomicronemia familial. Hyperlipemia. Source This information provided by TheFHFoundationorgdiscriminate on the basis of race color national origin age disability or sexATENCIN si habla espaol tiene a su disposicin servicios gratuitos de Sample & Methods. . 100 index cases (IC): 87 adults and 13 children; 8 were severe forms. . Identifies variants were traced in 36 relatives. NGS panel: LDLR, APOB, PCSK9, LDLRAP1 and APOE . (. From baseline to 24 weeks, the change in . LDL-C: . -48.8% for . alirocumab. . vs. 9.1. % for placebo (p < 0.0001). The dose of . alirocumab. was up-titrated in 43.4% of . participants; this . reduction was maintained to 52 . hypercholestrolemia. and pregnancy. Soheila. . S. adeghi. What is our patient’s diagnosis ?. Is her treatment appropriate ?. Is it necessary to evaluate the patient for CAD ?. Pregnancy outcome in mother and fetus ?. 1 Denite Familial Hypercholesterolemia: Required laboratory = high cholesterol levels:  Adult = T��otal cholesterol levels 290 mg/dL (7.5 mmol/L) or LDL-C 190 mg/dL (4.9 The Benefits of Reading Books April 25, 2017. Presented by: Michael Levy, MD, PhD. Disclosures. No meaningful disclosures. Transverse Myelitis: Definition. From http://. saintlukeshealthsystem.org. Acute. Idiopathic/. Post-infectious. Dr Deep Shah, . Clinical. . Lead UCL Partners. Dominic . Studart. , North Thames GMSA Familial . Hypercholesterolaemia. Project Nurse . Aims. What is FH? . Diagnosing FH. Implementing UCLPartners FH Searches .