Atlas One · Host Biology · Scale 07 — System

Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant disorder; LDLR mutations (most common), APOB R3527Q, or PCSK9 GOF mutations → LDL-C >190 mg/dL; premature atherosclerosis and MI (HoFH: untreated → MI by age 20). Statins + PCSK9 inhibitors are standard treatment.

Also known as: FH, heterozygous FH, HeFH, homozygous FH, HoFH, familial hypercholesterolaemia, autosomal dominant hypercholesterolemia, ADH

Scale 07 — SystemScale
draftStatus
2026-06-07Last Reviewed
This is an auto-generated stub page built from atlas entry frontmatter. A richer hand-crafted page is planned. See the atlas source for the full entry including detailed body sections.
familial-hypercholesterolemia

Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant disorder; LDLR mutations (most common), APOB R3527Q, or PCSK9 GOF mutations → LDL-C >190 mg/dL; premature atherosclerosis and MI (HoFH: untreated → MI by age 20). Statins + PCSK9 inhibitors are standard treatment.

Entry Metadata

FieldValue
IDfamilial-hypercholesterolemia
NameFamilial Hypercholesterolemia
Statusdraft
Last reviewed2026-06-07
Atlas01-human
Scale07-system

Cross-Atlas Connections

connects-toPcsk9 connects-toAtherosclerosis connects-toCholesterol connects-toHepatocyte connects-toMacrophage connects-toStroke connects-toHeart connects-toEndothelial Cell connects-toSmooth Muscle Cell treated-byStatins connects-toLiver connects-toHypertension connects-toCardiovascular System connects-toType 2 Diabetes connects-toNash connects-toHeart Failure connects-toObesity connects-toCkd connects-toApoe connects-toCalcium connects-toPhoton connects-toSkin connects-toEye connects-toFibroblast connects-toIl 6 connects-toT Helper Cell connects-toCollagen connects-toPlatelet connects-toOxygen connects-toVegf connects-toKidney connects-toBone Marrow connects-toNeutrophil connects-toBrain connects-toFibrosis connects-toTnf Alpha connects-toElectron connects-toLarge Intestine connects-toSpleen connects-toMusculoskeletal System connects-toPancreas connects-toReproductive System connects-toAntibody connects-toThyroid connects-toDietary Fiber connects-toSmall Intestine connects-toFibrinogen connects-toT Cytotoxic Cell connects-toNf Kb connects-toMast Cell connects-toThyroid Hormones connects-toCardiomyocyte connects-toDendritic Cell connects-toVenous Thromboembolism connects-toWound Healing connects-toMajor Depressive Disorder connects-toGout connects-toAlzheimers Disease connects-toNeuropathic Pain connects-toGeneralized Anxiety Disorder connects-toIntegumentary System connects-toDigestive System connects-toEndocrine System connects-toRenal System connects-toNervous System connects-toImmune System connects-toAspirin connects-toAce Inhibitors connects-toOmega 3 Fatty Acids connects-toArterial Wall connects-toLymphatic System connects-toBerberine connects-toTargeted Therapy connects-toHepatic Lobule connects-toMyocardium connects-toCardiac Conduction System connects-toAdrenal Gland connects-toGlomerulus connects-toEndocardium connects-toIntestinal Epithelium connects-toType 1 Diabetes connects-toWerner Syndrome connects-toMarfan Syndrome connects-toCortical Bone connects-toNitric Oxide connects-toCcl2 connects-toEndothelin 1 connects-toNlrp3 Inflammasome connects-toHif 1Alpha connects-toS100A8 A9 connects-toRage connects-toThrombin connects-toComplement C3 connects-toIl 1B connects-toCaspase 3 connects-toCalcium connects-toPdgf connects-toTgf Beta connects-toComplement C5 connects-toMyd88 connects-toNfe2L2 connects-toAkt connects-toGalectin 3 connects-toMtor connects-toErk1 2 connects-toStat3 connects-toSmad4 connects-toCgas Sting connects-toFoxo connects-toStat1 connects-toJak1 2 connects-toGsk 3B connects-toAmpk connects-toPerforin connects-toPik3Ca connects-toAutophagy connects-toCcr5 connects-toDnmt3A connects-toCxcl12 connects-toSrc Kinase connects-toIl 33 connects-toIl 17A connects-toArid1A connects-toTroponin Complex connects-toXanthine Oxidase connects-toMhc Class Ii connects-toIl 2 connects-toIl 10 connects-toEstrogen connects-toProstaglandins connects-toVon Willebrand Factor connects-toInsulin connects-toIl 4 connects-toLeptin connects-toAdiponectin connects-toIl 13 connects-toResistin connects-toIron connects-toEndothelial Cell connects-toHepatocyte connects-toSmooth Muscle Cell connects-toIfn Gamma connects-toIl 12 connects-toType I Interferon connects-toIl 5 connects-toIl 23 connects-toIge connects-toNatural Killer Cell connects-toC5Ar1 connects-toFactor H connects-toC1 Esterase Inhibitor connects-toOsteopontin connects-toTransferrin connects-toTslp connects-toBradykinin connects-toErythropoietin connects-toHistamine connects-toPeriostin connects-toMelatonin connects-toTestosterone connects-toSerotonin connects-toProlactin connects-toOxytocin connects-toVasopressin connects-toSelenium connects-toZinc connects-toIodine connects-toSodium connects-toMagnesium connects-toCarbon connects-toChloride connects-toHydrogen connects-toPd 1 connects-toGlp 1 connects-toAngiotensin Ii connects-toWnt Beta Catenin connects-toRankl connects-toFibronectin connects-toSmad4 connects-toNotch connects-toIgf 1 connects-toActivin A connects-toCgrp connects-toCalcitonin connects-toSubstance P connects-toInsulin Receptor connects-toAldosterone connects-toAndrogen Receptor connects-toNorepinephrine connects-toAdrenomedullin connects-toBdnf connects-toFgfr connects-toEpinephrine

Sources