144600

HYPERLIPOPROTEINEMIA, TYPE IV


Alternative titles; symbols

CARBOHYDRATE-INDUCIBLE HYPERLIPEMIA


Clinical Synopsis
 

Vascular
- Precocious atherosclerosis
Metabolic
- Abnormal glucose tolerance
Skin
- Atheroeruptive xanthoma
Misc
- Phenotype environmentally influenced, esp. by carbohydrate and ethanol consumption, uremia, hypopituitarism, contraceptive steroids, and glycogen storage disease I
Lab
- Hyperlipoproteinemia IV
- Increased plasma VLDL
- Plasma triglycerides persistently increased
- Plasma cholesterol and phospholipids usually normal
Inheritance
- Autosomal dominant
- heterogeneous

TEXT

Description

On a regular diet patients with type IV hyperlipoproteinemia demonstrate increased plasma VLDL. Plasma triglycerides are persistently increased, while plasma cholesterol and phospholipids are usually within normal limits. Precocious atherosclerosis, abnormal glucose tolerance, and atheroeruptive xanthoma may occur. The disorder is undoubtedly heterogeneous and the phenotype strongly influenced by environmental factors, particularly carbohydrate and ethanol consumption.


Clinical Features

In an old American family living in New England, Schreibman et al. (1969) described hyperprebetalipoproteinemia behaving as an autosomal dominant with reduced penetrance. Although triglyceride levels as high as 2000 mg per 100 ml were observed in some children of this family, precocious atherosclerosis was not observed. The absence of obesity and glucose intolerance may account for the favorable prognosis. Goldman et al. (1972) emphasized the association of rheumatic manifestations.


REFERENCES

  1. Goldman, J. A., Glueck, C. J., Abrams, N. R., Steiner, P. M., Herman, J. H. Musculoskeletal disorders associated with type-IV hyperlipoproteinaemia. Lancet 300: 449-452, 1972. Note: Originally Volume II. [PubMed: 4115343, related citations] [Full Text]

  2. Schreibman, P. H., Wilson, D. E., Arky, R. A. Familial type IV hyperlipoproteinemia. New Eng. J. Med. 281: 981-985, 1969. [PubMed: 5824739, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
alopez : 07/24/2019
carol : 06/26/2019
carol : 06/26/2019
wwang : 11/22/2010
terry : 1/21/2009
mimadm : 9/24/1994
supermim : 3/16/1992
carol : 5/8/1991
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988

144600

HYPERLIPOPROTEINEMIA, TYPE IV


Alternative titles; symbols

CARBOHYDRATE-INDUCIBLE HYPERLIPEMIA


SNOMEDCT: 129589009, 238085009, 267433009, 34528009;   ICD10CM: E78.1;   ICD9CM: 272.1;   DO: 1172;  



TEXT

Description

On a regular diet patients with type IV hyperlipoproteinemia demonstrate increased plasma VLDL. Plasma triglycerides are persistently increased, while plasma cholesterol and phospholipids are usually within normal limits. Precocious atherosclerosis, abnormal glucose tolerance, and atheroeruptive xanthoma may occur. The disorder is undoubtedly heterogeneous and the phenotype strongly influenced by environmental factors, particularly carbohydrate and ethanol consumption.


Clinical Features

In an old American family living in New England, Schreibman et al. (1969) described hyperprebetalipoproteinemia behaving as an autosomal dominant with reduced penetrance. Although triglyceride levels as high as 2000 mg per 100 ml were observed in some children of this family, precocious atherosclerosis was not observed. The absence of obesity and glucose intolerance may account for the favorable prognosis. Goldman et al. (1972) emphasized the association of rheumatic manifestations.


REFERENCES

  1. Goldman, J. A., Glueck, C. J., Abrams, N. R., Steiner, P. M., Herman, J. H. Musculoskeletal disorders associated with type-IV hyperlipoproteinaemia. Lancet 300: 449-452, 1972. Note: Originally Volume II. [PubMed: 4115343] [Full Text: https://doi.org/10.1016/s0140-6736(72)91852-1]

  2. Schreibman, P. H., Wilson, D. E., Arky, R. A. Familial type IV hyperlipoproteinemia. New Eng. J. Med. 281: 981-985, 1969. [PubMed: 5824739] [Full Text: https://doi.org/10.1056/NEJM196910302811803]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
alopez : 07/24/2019
carol : 06/26/2019
carol : 06/26/2019
wwang : 11/22/2010
terry : 1/21/2009
mimadm : 9/24/1994
supermim : 3/16/1992
carol : 5/8/1991
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988