What does CESD mean in DISEASES

CESD, also known as cholesteryl ester storage disease, is a rare genetic disorder that affects the metabolism of cholesterol and other fats. People with CESD cannot process these important substances properly, leading to an accumulation and storage of abnormal fats in the cells of different organs.

CESD is inherited in an autosomal recessive manner. This means that both parents must pass down a mutated gene to their child in order for them to develop the condition.

Symptoms of CESD vary depending on age and severity but can include vomiting, diarrhea, fatty liver, growth delay, enlarged liver, recurrent pancreatitis and elevated levels of cholesterol and triglycerides in the blood.

Doctors usually diagnose CESD through a combination of physical exams, family history review, blood tests and imaging studies such as ultrasounds or MRI scans. Depending on the results from these tests, genetic testing may be recommended to confirm a diagnosis.