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Homozygous Familial Hypercholesterolemia Hub

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New Homozygous Familial Hypercholesterolemia research indexed on PubMed  Β·  Recruiting trials on ClinicalTrials.gov  Β·  Find a Homozygous Familial Hypercholesterolemia specialist near you  Β·  Homozygous Familial Hypercholesterolemia community & caregiver support  Β·  CFRD screening reminder  Β· 
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Medical Overview of Homozygous Familial Hypercholesterolemia

Sources cited

A rare disorder of lipid metabolism characterized by severely elevated plasma total cholesterol, low-density lipoprotein (LDL) cholesterol levels, and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of premature cardiovascular disease and death. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction and aortic valvular disease.

State of Disease · Prevalence / incidence
1-9 / 1 000 000 — Point prevalence · Worldwide (Validated)
Source: 31947532 32439005 ORPHANET — via Orphanet (orphadata.com), CC-BY 4.0 · cited, never invented.
Gene / DefectAPOB, LDLR, LDLRAP1, PCSK9
InheritanceAutosomal dominant / Autosomal recessive
Hallmark SymptomsPrecocious atherosclerosis, Premature arteriosclerosis, Abnormal internal carotid artery morphology, Abnormal left ventricular function, Abnormal tendon morphology, Angina pectoris, Aortic atherosclerosis, Cerebral artery atherosclerosis
Also known as: HoFH
Classification & codes: GARD 0010416 · Orphanet ORPHA:391665 · OMIM 143890 · ICD-10 E78.0

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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News & Updates
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News & Updates

New in Homozygous Familial Hypercholesterolemia research Β· 2026

ALYFTREK shows positive Phase 3 results in children ages 2–5

Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.

Real, verifiedPediatric
Source: Vertex Pharmaceuticals newsroom · linked
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Community Discussion Β· in Parent Caregivers Β· 4 hours ago

Airway clearance routines that actually work for teens

πŸ’¬ 142 replies❀ 87 likes
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Clinical Trial Match Β· Recommended for you

3 open trials match this profile

Locations in NC, FL and GA.

GeneticModulatorAges 12+
Source: ClinicalTrials.gov · linked
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Homozygous Familial Hypercholesterolemia Family Conference

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Featured Education Β· Tomeko Grand Rounds

Care & management overview — Homozygous Familial Hypercholesterolemia

Educational programming; see the cited sources on this hub.

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Homozygous Familial Hypercholesterolemia News & Developments

The latest Homozygous Familial Hypercholesterolemia research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.

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Recruiting trials

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Loading recruiting Homozygous Familial Hypercholesterolemia trials…Live from ClinicalTrials.gov

Find a Homozygous Familial Hypercholesterolemia Specialist Near You

Sample results β€” illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.

Specialists Who Treat Homozygous Familial Hypercholesterolemia

16
Verified specialists across the fields that manage Homozygous Familial Hypercholesterolemia — genetics, nephrology, cardiology, neurology and more. Each is confirmed to prescribe an FDA-approved Homozygous Familial Hypercholesterolemia therapy from public CMS records, and each links to their Tomeko listing. No patient data.
Color code: verified treater  ·  also publishes on Homozygous Familial Hypercholesterolemia
Showing 6 of 16 verified specialists across these fields. See the full directory →
How we validate: confirmed treaters from public CMS prescribing records + specialty and location from the NPPES provider registry; a “Publishes on Homozygous Familial Hypercholesterolemia” chip means the clinician also appears in PubMed for this condition. A public-data signal, not an endorsement — confirm any clinician is accepting patients.

Treatment & Daily Living

Medical care plus the everyday therapies and supports relevant to Homozygous Familial Hypercholesterolemia. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →

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Physical therapyStrength, mobility and function.
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Occupational therapyDaily-living skills and adaptive strategies.
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School & workAccommodations, IEP / 504 and workplace support.
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Caregiver & respiteSupport and rest for the people doing the caring.

Media Center

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News, podcasts, books & research for Homozygous Familial Hypercholesterolemia — real coverage, links out, never re-hosted.

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NewsLatest coverage.
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PodcastsEpisodes & shows.
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BooksBooks & memoirs.
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ResearchNewest papers (PubMed).

Audience Guides

Plain-language guidance for the people around someone with Homozygous Familial Hypercholesterolemia — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.

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TeacherA student may need accommodations — rest breaks, bathroom access, flexible deadlines, or a place for medication. Keep the care plan handy, know the warning signs, and treat the student as capable — most want to be included, not singled out.
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CoachAsk the family what activity is safe and what to watch for. Have an emergency plan and the family's contacts on hand. Build in rest and hydration, and adapt drills so they can take part.
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Employer / managerFocus on what helps them do the job — flexible hours, remote options, accessible space, and time for appointments. Keep health details private and let them lead on what they share.
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School nurseGet the care plan and medication orders on file, know the emergency steps and who to call, and coordinate quietly with teachers so the student is supported without being singled out.
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Family & friendsLearn the basics, ask how you can help rather than assuming, and offer specific support — a meal, a ride, or just listening. Small, steady help matters more than grand gestures.

Companies Developing Treatments

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Biopharma companies with registered trials for Homozygous Familial Hypercholesterolemia — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.

IndustryOrganon and Co7 registered trials for Homozygous Familial Hypercholesterolemia
IndustryRegeneron Pharmaceuticals6 registered trials for Homozygous Familial Hypercholesterolemia
IndustryAegerion Pharmaceuticals, Inc.6 registered trials for Homozygous Familial Hypercholesterolemia
IndustryNovartis Pharmaceuticals6 registered trials for Homozygous Familial Hypercholesterolemia
IndustryAmgen4 registered trials for Homozygous Familial Hypercholesterolemia
IndustryKastle Therapeutics, LLC4 registered trials for Homozygous Familial Hypercholesterolemia
IndustryArrowhead Pharmaceuticals3 registered trials for Homozygous Familial Hypercholesterolemia
IndustryREGENXBIO Inc.3 registered trials for Homozygous Familial Hypercholesterolemia
IndustryBeijing Suncadia Pharmaceuticals Co., Ltd3 registered trials for Homozygous Familial Hypercholesterolemia
Full biopharma directory (ClinicalTrials.gov) →
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Questions For Your Next Visit

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

Tools

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Homozygous Familial Hypercholesterolemia Care Directoryfrom CFRI faculty

Every institution behind the faculty, with their affiliated experts.

Researchers Publishing on Homozygous Familial Hypercholesterolemia

20
People who publish research on Homozygous Familial Hypercholesterolemia, ordered by number of articles — a research-activity signal. This is not a directory of treating clinicians; to find a doctor who treats Homozygous Familial Hypercholesterolemia near you, use the Find a Specialist Near You finder above. Each links to their Tomeko researcher profile.
Ordered by number of published articles on this condition — a public-data count from PubMed records (NIH/NLM). A signal of research activity, not a Tomeko ranking or endorsement.

Mental Health Toolkit

Sources cited

Coping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Homozygous Familial Hypercholesterolemia β€” for patients and caregivers alike.

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504 & IEP Accommodations Checklist

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

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Grand Rounds & Accredited Education

CFRI 2026 program
Homozygous Familial Hypercholesterolemia Pharmaceutical Issues β€” Drug-Drug Interactions and BeyondJake Brockmeyer, PharmD
Grand Rounds & CME — Homozygous Familial HypercholesterolemiaManu Jain, MD
Clinical management — Homozygous Familial HypercholesterolemiaKevin Scully, MB BCh BAO
Multidisciplinary care — Homozygous Familial HypercholesterolemiaSigrid Barrett, PhD, RN
Panel: Impacts of Aging with Homozygous Familial HypercholesterolemiaUluer Β· Desch Β· Brace Β· Mentch
The Bloom Effect: How Resilience Transforms UsKimberly Morse, MSW, LCSW
Homozygous Familial Hypercholesterolemia in the Context of the ExposomeGabriela Oates, PhD
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Take a Patient Survey2–3 min Β· optional

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Certified Centers of Excellence

CFF network

Care centers and specialists for Homozygous Familial Hypercholesterolemia, from Tomeko’s verified provider directory (CMS NPPES).

Boston Children's HospitalBoston, MA
Children's Hospital of PhiladelphiaPhiladelphia, PA
Cincinnati Children's HospitalCincinnati, OH
Stanford / Lucile Packard Children'sPalo Alto, CA
Johns HopkinsBaltimore, MD
Texas Children's HospitalHouston, TX

Representative CFF centers β€” the official CFF directory has the complete, current list.

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Nonprofits & Foundations

Grants & Financial Help

Financial Guidance CompassFree, personalized care-coordination and financial-guidance service for people with Homozygous Familial Hypercholesterolemia and their families.
HealthWell FoundationCopay and insurance-premium assistance for Homozygous Familial Hypercholesterolemia treatments.
Patient Access Network FoundationHelps cover out-of-pocket costs for Homozygous Familial Hypercholesterolemia medications.

Representative programs β€” illustrative only. Eligibility and availability vary; not a guarantee of assistance.

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State of the Disease
2026 report
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Getting Started Pack
PDF guide
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Daily Management Guide
PDF Β· illustrated
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College & Career Planning
PDF guide

Patient & Family Guides

Sources cited
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2026 State of the Disease ReportPDF Β· updated 2026

An annual snapshot of Homozygous Familial Hypercholesterolemia research, treatment access and outcomes, written in plain language for patients and families.

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Getting Started PackPDF guide

Practical starting points and things to plan for in the first year after diagnosis.

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Daily Management GuidePDF Β· illustrated

Step-by-step guidance, what to expect, and a sample daily routine.

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College & Career PlanningPDF guide

Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Homozygous Familial Hypercholesterolemia.

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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