Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease

https://doi.org/10.1016/0006-2944(85)90123-1Get rights and content

Abstract

Cholesteryl ester storage disease, caused by the loss of lysosomal acid ester hydrolase (EC 3.1.1.13), has been previously associated with hyperlipidemia and premature atherosclerosis. We identified a 23-month-old female with cholesteryl ester storage disease and characterized the plasma lipids and lipoproteins in the proband and her family. These studies illustrate several important points about this disease. First, a high index of suspicion is required to diagnose this disease since the major physical manifestation of the disorder, mild hepatomegaly, is subtle. Second, the Type II hyperlipoproteinemia in the proband is paralleled by a reduction in the concentration of high density lipoproteins. Third, analysis of the plasma lipids and lipoproteins in family members revealed both Type II and Type IV hyperlipoproteinemia with an inheritance pattern similar to that of familial combined hyperlipoproteinemia. Fourth, the parents and brother of this patient had 50% normal fibroblast acid ester hydrolase activity. These results raise the possibility that deficiency of the lysosomal acid ester hydrolase may be linked to familial combined hyperlipoproteinemia and that this enzyme deficiency may be more common than previously appreciated.

References (19)

  • J.M. Hoeg et al.

    Biochem. Biophys. Acta

    (1982)
  • O.H. Lowry et al.

    J. Biol. Chem.

    (1951)
  • J.M. Folch et al.

    J. Biol. Chem.

    (1957)
  • J.G. Heider et al.

    J. Lipid Res.

    (1978)
  • J.L. Goldstein et al.

    J. Clin. Invest.

    (1973)
  • U.S. Department of Health and Human Services

    The Lipid Research Clinics Population Studies Data Book

    (1980)
  • H.R. Sloan et al.

    J. Clin. Invest.

    (1972)
  • G. Assmann et al.

    The Metabolic Basis of Inherited Disease

  • A.D. Patrick et al.

    Nature (London)

    (1969)
There are more references available in the full text version of this article.

Cited by (15)

  • Lysosomal acid lipase deficiency in pediatric patients: a scoping review

    2022, Jornal de Pediatria
    Citation Excerpt :

    The median age at death for Wolman disease was four months, similar to the median life expectancy reported by Jones et al.5 In seven patients (3.64%), an incidental diagnosis was made during a surgical procedure, which should serve as a warning about the current underdiagnosis and the need for attention from the pediatricians responsible for these patients' care. Although the investigation was initiated due to the macroscopic liver characteristics found during the surgery, these patients had previous laboratory and clinical anomalies prior to the surgical procedure which had not been valued by the attending physicians.2,54-56,61,65,112,114 The long gap between the first symptoms of the disease and the diagnosis is explained by a lack of awareness and knowledge about LAL-D.123

  • Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

    2013, Journal of Hepatology
    Citation Excerpt :

    There were 65 patients for whom HDL-cholesterol levels were reported, ranging from 8 to 50 mg/dl; 71% had HDL-cholesterol levels between 20 and 40 mg/dl, and 18% had levels below 20 mg/dl, while 11% had levels >40 mg/dl. Interestingly, at least 10 kindred were reported in which first-degree relatives of the probands who were obligate heterozygotes, as well as heterozygotes detected by E8SJM−1G>A screening, had significantly elevated serum total cholesterol levels [12,13,49,61–71,131]. Several reports documented the presence of coronary artery disease or atherosclerosis in the parents of affected patients, though few heterozygotes had known concomitant liver disease [49,67].

  • Lysosomal acid lipase deficiency: A form of non-obese fatty liver disease (NOFLD)

    2017, Expert Review of Gastroenterology and Hepatology
  • Wolman disease/cholesteryl ester storage disease

    2011, Atlas of Inherited Metabolic Diseases: Third Edition
View all citing articles on Scopus
View full text