Cholesteryl Ester Storage Disease Overview

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Learn About Cholesteryl Ester Storage Disease

What is the definition of Cholesteryl Ester Storage Disease?
Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with Cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. People with Cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). This buildup can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by genetic changes in the LIPA gene. It is inherited in an autosomal recessive manner.
What are the alternative names for Cholesteryl Ester Storage Disease?
  • Cholesteryl ester storage disease
  • CESD
  • Cholesterol ester hydrolase deficiency
  • Cholesterol ester storage disease
Who are the top Cholesteryl Ester Storage Disease Local Doctors?
Experienced in Cholesteryl Ester Storage Disease
Dr. Michael S. Oakley
Internal Medicine
Experienced in Cholesteryl Ester Storage Disease
Dr. Michael S. Oakley
Internal Medicine

New York University

111 Broadway, 
New York, NY 
 (8.6 mi)
212-263-9700
Languages Spoken:
English
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Offers Telehealth

Michael Oakley is an Internal Medicine provider in New York, New York. Dr. Oakley and is rated as an Experienced provider by MediFind in the treatment of Cholesteryl Ester Storage Disease. His top areas of expertise are High Cholesterol, Developmental Reading Disorder, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism.

Experienced in Cholesteryl Ester Storage Disease
Dr. Robert A. Lukenda
Family Medicine
Experienced in Cholesteryl Ester Storage Disease
Dr. Robert A. Lukenda
Family Medicine

New Jersey Family Medical

216 N Ave, 
Cranford, NJ 
 (9.6 mi)
908-275-3810
Experience:
17+ years
Languages Spoken:
English
Offers Telehealth

Robert Lukenda is a Family Medicine provider in Cranford, New Jersey. Dr. Lukenda has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Cholesteryl Ester Storage Disease. His top areas of expertise are Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Neuralgia.

 
 
 
 
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Experienced in Cholesteryl Ester Storage Disease
Dr. Joseph S. Cervone
Family Medicine | Internal Medicine
Experienced in Cholesteryl Ester Storage Disease
Dr. Joseph S. Cervone
Family Medicine | Internal Medicine

Rwjbh Primary Care Services

200 S Orange Ave, 
Livingston, NJ 
 (9.9 mi)
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Joseph Cervone is a Family Medicine specialist and an Internal Medicine provider in Livingston, New Jersey. Dr. Cervone and is rated as an Experienced provider by MediFind in the treatment of Cholesteryl Ester Storage Disease. His top areas of expertise are Nasal Flaring, Relapsing Multiple Sclerosis (RMS), Maturity Onset Diabetes of the Young, and Type 2 Diabetes (T2D).

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What are the latest Cholesteryl Ester Storage Disease Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Enrollment Status: Recruiting
Publish Date: February 12, 2025

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Who is this study for: Pregnant women age 18 to 50 carrying fetuses between 18 to 34 weeks gestation diagnosed with lysosomal storage disorders
Enrollment Status: Recruiting
Publish Date: January 27, 2025
Intervention Type: Drug
Study Drug: Aldurazyme (laronidase)
Study Phase: Phase 1

Summary: For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The 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.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center