Metabolism
Volume 46, Issue 10 , October 1997, Pages 1215-1219
Erdheim-chester disease: Low low-density lipoprotein levels due to rapid catabolism
Hartmut H. -J. Schmidt , Richard E. Gregg, Robert Shamburek, Bryan H. B. Brewer, Jr. and Loren A. Zech
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Received 6 January 1997; accepted 4 April 1997. Available online 31 August 2004.
Abstract:
We have identified a 44-year-old patient with symmetrically excessive xanthomatosis, called Erdheim-Chester disease (ECD), and simultaneously decreased levels of low-density lipoprotein (LDL) cholesterol.
Clinically, this patient presents lipoidgranulomatosis of numerous long and flat bones with involvement of the liver, spleen, pericardium, pleura, thyroid, skin, conjunctiva, and gingiva. However, the patient does not have any signs of atherosclerosis. So far, the underlying defect has not been elucidated.
We performed a LDL—apolipoprotein B (apoB) kinetic study in the ECD patient and a normal control to determine the etiology of the low LDL level in ECD. LDL was isolated from both subjects, radioiodinated with either 131I or 125I, and injected simultaneously into the ECD patient and the normal control.
Normal and ECD LDL was catabolized at the same rate after injection into the control subject (fractional catabolic rate [FCR], 0.43/d and 0.46/d, respectively).
Therefore, LDL isolated from an ECD subject is metabolically normal.
In contrast, autologous LDL injected into the ECD subject showed a markedly increased catabolism (FCR, 0.69/d) compared with that in the control subject (FCR, 0.43/d). This is the first report about increased catabolism of LDL cholesterol in a patient.
Corresponding author. Address reprint requests to Hartmut H.-J. Schmidt, MD, Abt. Gastroenterologie und Hepatologie, OE 6852, Medizinische Hochschule Hannover, 30623 , Hannover, , Germany.