Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult

Chatrath, Hemant; Keilin, Steven; Attar, Bashar M.

doi:10.1007/s10620-008-0310-2

Cited by 28 publications

(18 citation statements)

References 38 publications

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“…Clinical presentation may occur as early as infancy or as late as the fifth and sixth decades of life; sometimes CESD is diagnosed completely by accident [35]. Patients with severe CESD may present with Wolman Disease-like symptoms, such as diarrhea and failure to thrive [16].…”

Section: Introductionmentioning

confidence: 99%

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development

Aguisanda

Thorne

Zheng

2017

Curr. Chem. Genomics and Translat. Med.

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Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive. As in CESD, histological analysis of WD tissues reveals the accumulation of triglycerides (TGs) and esterified cholesterol (EC) in cellular lysosomes. However, the clinical presentation of CESD is less severe and more variable than WD. This review is to provide an overview of the disease pathophysiology and the current state of therapeutic development for both of WD and CESD. The review will also discuss the application of patient derived iPSCs for further drug discovery.

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Section: Introductionmentioning

confidence: 99%

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development

Aguisanda

Thorne

Zheng

2017

Curr. Chem. Genomics and Translat. Med.

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“…Autopsy findings demonstrated hepatomegaly with micronodular cirrhosis and disseminated cholangiocarcinoma; extensive severe atherosclerosis was also observed (Elleder et al 2000b). Chatrath et al (2009) reported a 43-year-old man diagnosed with CESD on liver biopsy performed with a view to staging hepatitis C infection. Further, they summarised the features of an additional 18 cases previously described.…”

Section: Discussionmentioning

confidence: 99%

“…CESD usually presents in childhood or adolescence with hypercholesterolemia or hepatomegaly due to hepatic steatosis that eventually progresses to cirrhosis (Chatrath et al 2009). Patients may succumb to complications relating to accelerated atherosclerosis or chronic liver disease, including hepatocellular carcinoma.…”

Section: Introductionmentioning

confidence: 99%

Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease

et al. 2012

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“…Cholesterol ester storage disease normally presents in childhood or adolescence with dyslipidemia (hypercholesterolemia, hypertriglyceridemia and low high-density lipoprotein cholesterol [HDL-C] levels) and hepatomegaly due to hepatic steatosis that eventually progresses to cirrhosis. 13 Patients may succumb to complications relating to accelerated atherosclerosis or chronic liver disease. Historically, most patients known to have CESD have died before the age of 30 years.…”

Section: Holesterol Ester Storage Disease (Cesd; Onlinementioning

confidence: 99%

Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report

Kuranobu

Murakami

Okamoto

et al. 2015

Hepatology Research

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Cholesterol ester storage disease (CESD) is an autosomal recessive disorder caused by deficient lysosomal acid lipase (LAL) activity, resulting in cholesteryl ester (CE) accumulation. CESD patients have liver disease associated with mixed dyslipidemia leading to liver failure. We here report the case of an 11-year-old male CESD patient with a novel mutation who had the chief complaint of massive hepatomegaly. The patient's liver reached to his pelvis, and his spleen was 2 cm below the costal margin. The patient had elevated serum liver enzymes and mixed dyslipidemia. The liver biopsy tissue showed characteristic CESD pathology, which included microvesicular steatosis, mild fibrosis and foamy macrophages. Electron microscopy showed a remnant cleft of CE crystals, and dried blood spot testing showed reduced LAL activity. We identified compound heterozygous mutations in the LIPA gene in this patient, namely, c.607G>C and c.791T>C. The former mutation was previously reported only in a Japanese patient, whereas the latter mutation is novel. The findings of this study suggest that LIPA gene mutations in Japanese CESD patients are different from those in Western patients. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed, and thus the possibility of CESD should be considered in patients with hepatosplenomegaly and dyslipidemia.

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Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult

Cited by 28 publications

References 38 publications

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development

Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development

Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease

Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report

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