Cholesterol ester storage disease: Clinical, biochemical, and pathological studies

Beaudet, Arthur L.; Ferry, George D.; Nichols, Buford L.; Rosenberg, Harvey S.

doi:10.1016/s0022-3476(77)80557-x

Cited by 89 publications

(44 citation statements)

References 9 publications

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“…This was also clearly observed in the present cases, which is in accordance with the findings of previously reported patients with CESD (11,12). In addition, formation of portal bridges was a feature in liver biopsies in the mentioned cases, which was similar to the findings of 3 previously reported cases by Sjouke et al (14).…”

Section: Discussionsupporting

confidence: 93%

“…In all 3 cases reported in the present study, elevated serum level of LDL, cholesterol, and TG alongside with decreased HDL were observed. These findings are in accordance with characteristics previously reported for CESD patients (11)(12)(13). The role of membrane transporters in deregulated levels of lipid derivatives has been proposed.…”

Section: Discussionsupporting

confidence: 92%

“…The older child experienced esophageal varices and aortic disorders. The younger child, who had survived till the age of 13 presented adrenal calcification (12). More patients are required to be reported to confirm if the above-mentioned complications could be pathological features in patients with CESD patients.…”

Section: Discussionmentioning

confidence: 94%

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Histopathological Findings in Cholesteryl Ester Storage Disease: A Report of Three Cases

et al. 2017

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Cholesteryl ester storage disease (CESD) is a disorder in which cholesteryl esters (CE) and triglycerides (TG) are preserved particularly in hepatocytes. The exact clinical manifestation is not known due to a lack of sufficient data. The current study presents 3 new cases of CESD with 2 of them being siblings. All had perturbed serum low-density lipoprotein (LDL), lactate dehydrogenase (LDH), triglyceride, and cholesterol. Hepatosplenomegaly was seen in all the patients. Liver biopsy showed fat storage in hepatocytes. Adrenomegaly or adrenal calcification, portal hypertension, esophageal varices, and hepatic scarring were not observed in any of the patients. Histopathologic features of CESD, including fat storage in hepatocytes, could characterize these patients.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 92%

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Histopathological Findings in Cholesteryl Ester Storage Disease: A Report of Three Cases

et al. 2017

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“…The incidence is unknown, but may be two to three times that of WD. Hepatomegaly can be the only clinical manifestation of CESD and results primarily from the accumulation of macrophages (Kupffer cells) engorged with CEs (7). Some patients develop cirrhosis, and/ or cholestasis, as well as premature atherosclerosis due to the impaired homeostasis of cholesterol, CE, and TG (7).…”

mentioning

confidence: 99%

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice

Cameron²,

Garger

et al. 2008

Journal of Lipid Research

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“…The liver is most severely affected with marked hepatomegaly, hepatocyte necrosis, elevation of transaminases and liver fibrosis that may progress to overt cirrhosis. Cardiovascular involvement is characterized by dyslipidemia (high cholesterol, high triglyceride and low HDL) and accelerated atherosclerosis [52,53]. As with many other hereditary lipid storage disorders, the clinical manifestations are heterogeneous.…”

Section: Cholesterol Ester Storage Disease (Lal Dficiency)mentioning

confidence: 99%

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly

Weinreb¹,

Rosenbloom²

2013

OJGen

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Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were the correct diagnosis suspected. In this review article, we discuss the definition and clinical ramifications of "massive" splenomegaly and describe several rare genetic disorders that are sometimes associated with marked splenic enlargement as well as four additional hereditary "splenomegalic" lysosomal storage diseases (cholesterol esterase storage disease, Niemann-Pick C disease, acid sphingomyelinase deficiency disease, Gaucher disease) in which approved or promising experimental treatments should generally obviate the need for palliative splenectomy. We also summarize current concepts about the appropriate use of splenectomy in patients with β-thalassemia, hereditary spherocytosis and Gaucher disease and discuss surgical alternatives to classical total splenectomy for these disorders.

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Cholesterol ester storage disease: Clinical, biochemical, and pathological studies

Cited by 89 publications

References 9 publications

Histopathological Findings in Cholesteryl Ester Storage Disease: A Report of Three Cases

Histopathological Findings in Cholesteryl Ester Storage Disease: A Report of Three Cases

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly

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