Condition 101 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 mutations in the LIPA gene. It is inherited in an autosomal recessive manner. Enzyme replacement therapy is available for the treatment of lysosomal acid lipase deficiencies, including cholesteryl ester storage disease, in the United States, the European Union, and Japan. A low cholesterol diet may also be helpful.

What are the alternative names for Cholesteryl Ester Storage Disease?

  • CESD
  • Cholesterol ester hydrolase deficiency
  • Cholesterol ester storage disease

Top Global Doctors For Cholesteryl Ester Storage Disease

Latest Advances On Cholesteryl Ester Storage Disease

  • Condition: Rapidly Progressive Lysosomal Acid Lipase Deficiency in Infants
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Sebelipase Alfa Enzyme Replacement Therapy
  • Number of Patients: 19
  • Published —
The study researched the outcomes of sebelipase alfa enzyme replacement therapy for treating rapidly progressive lysosomal acid lipase deficiency in infants.
  • Condition: Lysosomal acid lipase deficiency
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Enzyme replacement therapy
  • Number of Patients: 2
  • Published —
The study researched the effects of enzyme replacement therapy for lysosomal acid lipase deficiency.

Clinical Trials For Cholesteryl Ester Storage Disease

Clinical Trial
  • Status: Active, not recruiting
  • Participants: 1000
  • Start Date: August 20, 2018
Biomarker for Wolman Disease, AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Other
  • Participants: 1000
  • Start Date: September 1, 2017
Prevalence and Mutation Rate of Lipa Gene in LIPIGEN Subjects With Clinical Diagnosis of FH