familial dysbetalipoproteinemia

MeSH: D006952ORPHA: 4121 Treatment Available

Overview

Human disease

Available Treatments (1)

DrugFormStatusCountriesLead Time
Lomitapide
Orphan
CapsuleFDA Approved4

Clinical Presentation

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

Abnormality of the skinHypertriglyceridemiaHypercholesterolemiaIncreased LDL cholesterol concentrationDecreased HDL cholesterol concentrationLipemia retinalisDiabetes mellitusEruptive xanthomasCorneal arcusXanthelasmaHepatic steatosisObesityHepatomegalyType IV atherosclerotic lesionTendon xanthomatosisXanthomas of the palmar creasesTuberous xanthomaRenal steatosisHypothyroidismAngina pectorisAcute pancreatitisGoutAccelerated atherosclerosisPeripheral arterial stenosisPremature coronary artery atherosclerosisAortic atherosclerotic lesion

Classification & Codes

MeSH Code

D006952

Orphanet Code

ORPHA:412
familial dysbetalipoproteinemia
MeSHD006952
OrphanetORPHA:412
Treatments1 drug(s)
Symptoms on record26 signs
Statuspublished

Treatment Summary

Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
familial dysbetalipoproteinemia | OrphanDrug