9/30/2016 1 Familial Hypercholesterolemia: A Call to Action for Oregon NPs “Make an Early Diagnosis Prevent an Early Death” Presenter: Mary A. Nametka, MSN,RN,CWS,CWON,FNP‐BC 39 th Annual NPO 2016 Education Conference Hood River, Oregon Saturday October 10, 2016 DISCLOSURES : Mary Nametka has no relevant financial relationships to disclose and receives no compensation for her role as an FA (Familial Hypercholesterolemia) advocate. Note: This content is provided for the personal use of attendees only and may not otherwise be copied or reproduced without obtaining permission of the presenter. Requests may be sent to: [email protected]. Acknowledgements: P. Barton Duell, MD, FNLA, FAHA Director, Lipid Disorders Clinic and LDL Apheresis Director, Lipid‐ Atherosclerosis Laboratory Knight Cardiovascular Institute Division of Endocrinology, Diabetes, and Clinical Nutrition Oregon Health and Science University Portland, Oregon Katherine Wilemon Founder, CEO Katherine’s own journey to receive an accurate diagnosis and appropriate care for Familial Hypercholesterolemia (FH) urged her to devote her life to this cause. After being turned away from the ER several times and having a heart attack at 38, Katherine set out to raise awareness of FH and save lives.
Transcript
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Familial Hypercholesterolemia: A Call to Action for Oregon NPs
“Make an Early Diagnosis
Prevent an Early Death”
Presenter: Mary A. Nametka, MSN,RN,CWS,CWON,FNP‐BC39th Annual NPO 2016 Education Conference
Hood River, OregonSaturday October 10, 2016
DISCLOSURES :
Mary Nametka has no relevant financial relationships to discloseand receives no compensation for her role as an FA (Familial Hypercholesterolemia) advocate.
Note: This content is provided for the personal use of attendees only and may not otherwise be copied or reproduced without obtaining permission of the presenter. Requests may be sent to:[email protected].
Acknowledgements:
P. Barton Duell, MD, FNLA, FAHADirector, Lipid Disorders Clinic and LDL ApheresisDirector, Lipid‐Atherosclerosis LaboratoryKnight Cardiovascular InstituteDivision of Endocrinology, Diabetes, and Clinical NutritionOregon Health and Science UniversityPortland, Oregon
Katherine WilemonFounder, CEOKatherine’s own journey to receive an accurate diagnosis and appropriate care for Familial Hypercholesterolemia (FH) urged her to devote her life to this cause. After being turned away from the ER several times and having a heart attack at 38, Katherine set out to raise awareness of FH and save
lives.
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James A. Underberg, MD, MS, FACPM, FACP, FASPC, FNLA, president‐elect NLAClinical assistant professor of medicine at New York University (NYU) School of Medicine, director of Bellevue Hospital Lipid Clinic, member of the Center of Prevention of Cardiovascular Disease at NYU.Diplomate of the American Board of Clinical Lipidology, and a fellow of the NLA, American College of Preventive Medicine, ASPC, and American College of Physicians.
Sarah Ballow Clauss, MDDr. Clauss specializes in fetal echocardiography and dyslipidemias. Dr. Clauss is involved in the Joint Council on Congenital Heart Disease National Pediatric Cardiology Quality Improvement Collaborative to improve outcomes in children with heart disease.
Objectives:• What is FH and what makes it different from ‘just high cholesterol’
• What can we do about it?• Screening for early identification& Tx• Treatment guidelines
• Pharmacologic& Non‐pharmacologic approaches• Heterozygous vs Homozygous FH
• Gaps in the Evidence & Future FH Research• Roles of Primary Care Providers• Pt & family perspectives • FINDFH® Initiative & the CASCADE FH Registry™• FH in Oregon
FH is Different – “You never find an individual with FH. You always find a family.”– Katherine A. Wilemon
• HC professionals should use systematic methods (Cascade testing) to identify people with FH
• HC professionals should offer all people with FH, referral to a specialist with expertise in FH for confirmation of dx , explanation with implications & initiation of cascade testing
• Cascade testing using a combination of using LDL‐C measurements should be under taken to dx individuals with FH
• How? Partnering between Public Health & Providers • FH Foundation as facilitator & resource
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FH Screening GuidelinesThere is a lack of uniformity in use of diagnostic strategies among US providers‐Some European countries have national programs..deGoma
• Recommendations for lipid testing in families w premature CHD 1992
• Universal lipids screening beginning at age 20 recommended since 1988
• Recent guidelines American Academy of Pediatrics, National Lipid Association, European Atherosclerosis Society, International FH Foundation
• Universal screening at age 9‐11 since 2011
• 2013 ACC/AHA adult cholesterol guidelines 1B recommendation for statins age > 21yrs w LDL> 190mg/dl
• All statins FDA approved for children w FH at age 8 prava, 10yrs for other
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Risk Assessment beyond LDL‐C• LDL‐C is widely recognized as established CV risk marker
• Clinical trials demonstrate predictive ability for developmnt of CHD
• LDL‐C remains primary focus but not optimal
• LDL‐C is less accurate maker than non‐HDL‐C LDL particle number of apolipoprotein B (apoB).
• Other trig‐rich lipoproteins are also atherogenic, including VLDL remnants and IDL (intermediate density lipoproteins).
• TAKE AWAY: pts may meet target "LDL‐C goals" but still develop complications from atherosclerotic vascular disease w CV events = Missed Risk
Recheck LDL‐C, Trigs, non‐HDL‐C, apo B or LDL‐P –if not at goal add: Fenofibrate 150 or fenofibric acid 120, use gemfibrozil only if renal failure present; Niacin; recheck liver functions & blood sugar if starting Niacin
Recheck Labs, if still not at goal combine statin, fibrate + niacin
Recheck labs, if still not at goal, statin, fibrate, niacin, omega 3's
Specialist might Consider Lipid Apheresis – effective but access limitations
Gleeson, R, and Davidson, M. (2010), Lipidology a Primer: The What, And Why and How of Better Lipid Management, p. 138.
Gidding, S. Circulation. 2015;132: In Press
Proposed Treatment Protocols
Patients who remain above goal despite optimization of therapy may be considered for non-statin therapy. For higher risk patients (eg, with clinical ASCVD and/or LDL-C ≥190 mg/dL), the authors note a preference for adding ezetimibe first, followed by adding or switching to a PCSK9 inhibitor. The PCSK9 inhibitors alirocumab and evolocumab are FDA-approved for treatment of patients with ASCVD or FH in whom the LDL-C concentration is above the therapeutic goal.7,8 Evolocumab has the additional indication for homozygous FH. In lower-risk patients (eg, no clinical ASCVD, with diabetes), a bile acid sequestrant (eg, colesevelam) may be considered in place of ezetimibe; the authors do not define a role for PCSK9 inhibitors in these patients
Click to add text
FH Treatment Recommendations
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For each of these groups (except the last), the guidelines recommend maximally tolerated statin therapy; the last group should be managed with moderate-intensity statin therapy. When patients in these groups do not achieve goals, the authors recommend the following actions:6
•Address statin nonadherence
•Intensify lifestyle interventions
•Increase to high-intensity statin therapy (if not already taking), and
•Evaluate for statin intolerance.
FH Treatment Recommendations…continued
Duell, B. (2016), treatment CME
Professional Resource, Statin Dose Comparison. Pharmacist’s Letter/Prescriber’s Letter. July 2016. Retrieved: http://prescribersletter.therapeuticresearch.com
Some Important Prescribing Considerations for Statins
• Many statins have potential drug/disease interactions
• Statins should be continued during hospitalization • Rebound endothelial & inflammatory rxn may occur if stopped suddenly
• Lovastatin is best absorbed if taken w food
• Many Asians & South Asians are statin sensitive• lower starting dose may be required
• Variable half‐life of statins. • Atorva, pitava & rosuva w half‐life 12‐20+hrs so can be taken any time of day
• All other statins have half‐life <6hrs so need to be taken in evening
Gleeson & Davidson, pp 78‐79.
Meds & supplements
Barbiturates Phenytoin
Carbamazepine St. John’s Wort
Dexamethasone Rifampin
Glucocorticoids Sulfinpyrazone
Modafinal Phenobarbital
Phenylbutazone Navaripine
Statin Effectiveness
Davidson & Gleeson, p. 83
Additional Meds that induce CYP3A4 so decrease effectiveness especially of CYP3A4 statins: atorva, lova & simva
FH ‐ Contraception & pregnancy
Risks for pts & fetus should be discussed w all females of childbearing agePreferred contraception for adult females w FH: low estrogen oral agents, IUDs, barrier methods
Note: OCs w high estrogen content may inc trigs & LDL‐CMore research needed re LT use of OCs in FH
Pre‐pregnancy counseling recommended especially if both parents He: 25% risk of Ho childDiscontinue statins 3mo before planned conception, during pregnancy & lactationBile acid resins only safe agents ‐ but poorly tol, apheresis is safe to continueFH mothers not at risk for preterm delivery, infants not at risk for IGR or congenital malformationsNeonates of FH mothers have altered hemostatic profiles regardless of FH status & inc fatty streaks in aortasLT consequences unknown – more research needed
Wiegman, A., et al., (2015), Familial hypercholesterolemia in children and adolescents
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FH ‐ ChildhoodChildhood is optimal period to determine FH/ non‐FH
Testing recommended at 9‐11yrs or from age 5 or earlier if Ho suspectedLDL‐C screening can make the phenotypic dx
LDL‐C > 190 mg/dl ORLDL‐C > 160 mg/dl with fam Hx premature CHD and/or high baseline LDL‐C in 1 parentIF parent has genetic defect LDL‐C cutoff for child is 130 mg/dl
Healthy lifestyle & statin age 8‐10 yrs = cornerstone of mgmt of He FHTarget LDL‐C 130 mg/dl is > 130 mg/dl if > 10yrs OR ideally, 50% reduction from baseline if 8‐10yrs, especially if:Very high LDL‐C, elevated Lipo(a), fam hx premature CHD or other CV risk factorsBalance against long‐term risk of treatment side effects
Weigman, A., et al. (2015), Familial hypercholesterolaemia in children & adolescents: gaining decades of life by optimizing detection and treatment
FH‐ Geriatric population
• Consider still screen for FH & Treat per current guidelines
• on average, 4 family members are found for every case identified
• If FH, consider adopting tx strategies for high risk CHD
• Before discontinuing statin in seniors, first consider if FH
• Treatment guidelines not stratified beyond ‘adult’ – more research needed
• Gaps in the Evidence & Future FH Research•
• FH needs and Roles of Primary Care Providers • Pt & family perspec ves to guide treatment approaches • FINDFH® Initiative & the CASCADE FH Registry™ • FH in Oregon
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FH Foundation Website
Location‐based map to locate FH Specialists
Current HD Videos
Frequent Blog and News Updates
https://thefhfoundation.org/find‐fh/
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https://thefhfoundation.org/find‐fh/
https://thefhfoundation.org/find‐fh/
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• If your pts have high cholesterol and a family history, consider if it could be FH
• Sign up for our Newsletter.
• Share our educational materials with your pts & community.
• Invite a Patient Advocate to speak.
• Tweet and Post to raise awareness #KnowFH
• “Make an Early Diagnosis… Prevent an Early Death”
http://medpagetoday.realcme.com/cms/play/699718#2
Lipid‐lowering Therapies for Familial Hypercholesterolemia 0.75 AMA PRA Cat 1 credit
Research Needs in FH
• Role of Primary Care & allied health personnel• Gaps in care‐screening, dx, drug adherence/intolerance• Close guideline gaps frm peds‐adult• Separate FH from population‐based lipid tx guidelines
• Understand pt/family perspective on living w FH• Impact of pregnancy• ID & study biomarkers• Develop pt ‘decision aids’
• Evaluation of country‐specific FH care delivery• Population science – registries• Basic science – identify genes• Life course – timing & intensity of interventions• Clinical research – new pharmacologic agents, nutriceuticals• Patient‐centric research – Assess pt /family perceptions of screening/care
Gidding, S. et al., (2015), The agenda for familial Hypercholesterolemia: A scientific statement from the American Heart Association. Doi:10.1161/CIR.0000000000000297
