- Harbitz-Müller disease
No longer used term for familial hypercholesterolaemia. It is a familial form of hyperlipoproteinaemia characterized by high blood cholesterol levels (more than 300 mg/dl) associated with high concentrations of low-density lipoproteinaemia (LDL) due to a deficiency of a cell surface receptor that regulates LDL and degredation of cholesterol synthesis. Xanthomas, arcus corneae, anginal pain and premature arteriosclerotic coronoary disease are the principal clinical features. Both sexes affected; age of detection from infancy to third or fourth decade. Death from a myocardial infarction usually takes place before the age of 30 years. The condition is transmitted as an autosomal dominant trait, being more severe in persons inheriting two doses of the gene (i. e. .. homozygotes) than in those inheriting one dose (i. e. .. heterozygotes).
The yellow nodules were first described by the French dermatologist Pierre François Olive Rayer (1793-1867) i 1836 and are known as Rayer's nodules. They were later described by Charles Hilton Fagge (1838-1883) in 1872.
The syndrome was first described in 1925 by Francis Harbitz, later by Carl Arnoldus Müller in 1938.
We thank Søren Nørby, Denmark, for correcting an error in the original entry.
- P. F. O. Rayer:
Traité theorique et pratiques des maladies de la peau. Paris, 1836.
- Charles Hilton Fagge (1838-1883):
General xanthelasma or vitiligoidea.
Transactions of the Pathological Society of London, 1872, 24: 242-250.
- F. Harbitz:
Svulster inneholdende xanthomvæv. I. Sarkomer utgaaende fra seneskeder og ledkapsler. II. Multiple symmetriske xanthomer. III. Xanthosarkomer.
Norsk Magazin for Lægevidenskaben, 1925, 86: 321-348.
- C. A. Müller:
Xanthomata, hypercholesterolemia, angina pectoris.
Acta Medica Scandinavica, Stockholm, 1938, 89 (Supplement): 75-84.