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Cholesteryl ester storage disease (CESD)

Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver

Prevelance

Unknown

US Estimated

Unknown

Europe Estimated

Age of Onset

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ICD-10

E75.5

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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Rare View

Cholesteryl ester storage disease (CESD) is a rare autosomal-recessive inheritable lysosomal storage disease. It causes a buildup of lipidsin the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases.

5 Facts you should know

FACT

1

Disorder of infancy with massive infiltration of the liver and spleen by macrophages filled with cholesteryl esters and triglycerides

FACT

2

This disease occurs in the first few weeks of life

FACT

3

Calcium deposits in the adrenal glands cause them to harden

FACT

4

Bowel movements contain excess fat, which results in steatorrhea

FACT

5

 Infants feed poorly, vomit, and have an enlarged spleen and liver

Cholesteryl ester storage disease (CESD) is also know as...

Cholesteryl ester storage disease (CESD)

CESD; Cholesterol ester hydrolase deficiency, LIPA deficiency, Wolman disease

What’s your Rare IQ?

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Common signs & symptoms

Hepatomegaly

Enlarged liver

Arteriosclerosis

Diarrhea

Watery stool

Hepatic failure

Liver failure

Hypercholesterolemia

Elevated serum cholesterol
Elevated total cholesterol

Hypertriglyceridemia

Increased plasma triglycerides
Increased serum triglycerides

Nausea and vomiting

Splenomegaly

Increased spleen size

Current treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Sebelipase alfa

(Brand name: Kanuma) Manufactured by Alexion Pharmaceuticals
FDA-approved indication: Indicated for the treatment of patients with a diagnosis of lysosomal acid Lipase (LAL) deficiency.

Top Clinical Trials

TitleDescriptionPhasesStatusInterventionsMore Information
In Utero Enzyme Replacement Therapy for Lysosomal Storage DiseasesThe investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.Phase 1RecruitingDrug: Aldurazyme (laronidase)Click here for more information
Human Placental-Derived Stem Cell TransplantationThe purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant disorders who require a stem cell transplant. Patients will get either full dose (high-intensity) or lower dose (low intensity) chemo- and immunotherapy followed by a stem cell transplantation with UCB and HPDSC.Phase 1Active, not recruitingDrug: Human Placental Derived Stem CellClick here for more information

Top Treatments in Research

AgentClass/Mechanism of ActionDevelopment StatusCompanyClinical StudiesMore Information
Aldurazyme (laronidase)ALDURAZYME ® (laronidase) is an enzyme replacement therapy designed to address the underlying cause of mucopolysaccharidosis I (MPS I).Phase 1University of California, San FranciscoClick here for more informationClick here for more information
Human Placental Derived Stem CellHuman placenta-derived cells have mesenchymal stem/progenitor cell potential Mesenchymal stem/progenitor cells (MSCs) are widely distributed in a variety of tissues in the adult human bodyPhase 1New York Medical College

Click here for more informationClick here for more information

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 https://rarediseases.info.nih.gov