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homozygous familial hypercholesterolemia

MeSH: D000090542ORPHA: 391665

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with homozygous familial hypercholesterolemia, sourced from HPO and Orphanet clinical annotations.

HyperlipidemiaHypercholesterolemiaIncreased LDL cholesterol concentrationPrecocious atherosclerosisPremature arteriosclerosisHypertensionHepatic steatosisSudden cardiac deathMyocardial infarctionCoronary artery atherosclerosisAngina pectorisRenal artery stenosisDyspneaPeripheral arterial stenosisAbnormal left ventricular functionPremature coronary artery atherosclerosisMyocardial steatosisCerebral artery atherosclerosisAortic atherosclerotic lesionHeart murmurAbnormal tendon morphologyAbnormal internal carotid artery morphologyRenal steatosisXanthomatosisMitral regurgitationArthralgiaSupravalvular aortic stenosisCalcification of the aortaTendon xanthomatosisOptic neuropathyAbnormal eye physiologyAbnormal nervous system physiologyCoronary artery aneurysm

Classification & Codes

MeSH Code

D000090542

Orphanet Code

ORPHA:391665
homozygous familial hypercholesterolemia
MeSHD000090542
OrphanetORPHA:391665
Treatments0 drug(s)
Symptoms on record33 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO