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Hyperlipoproteinemia, type II, and deafness

MedGen UID:
326732
Concept ID:
C1840425
Disease or Syndrome
Synonym: Hyperlipoproteinemia, Type II, and Deafness
 
Monarch Initiative: MONDO:0007760
OMIM®: 144300

Clinical features

From HPO
Type IV atherosclerotic lesion
MedGen UID:
1632011
Concept ID:
C4703375
Disease or Syndrome
In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hypercholesterolemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Increased LDL cholesterol concentration
MedGen UID:
154289
Concept ID:
C0549399
Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Arcus senilis
MedGen UID:
8179
Concept ID:
C0003742
Finding
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.

Recent clinical studies

Therapy

Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A
Nephrol Dial Transplant 2001 Oct;16(10):2008-12. doi: 10.1093/ndt/16.10.2008. PMID: 11572889

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