7524 Cholesterol ester storage disease
Year: 2024
Type: article
Study design: Case Report
Abstract: Disclosure: N. Ebrahimi: None. R. Cardenas Lara: None. S. Tariq: None. Introduction: Cholesterol ester storage disease (CESD) is a lysosomal disease that has deficiency of lysosomal acid lipase (LIPA or LAL). This is a rare autosomal recessive disorder of cholesterol metabolism first described by Fredrickson in 1963. As of 1989, approximately 50 cases of CESD had been reported. There's a good chance that more CESD individuals were misdiagnosed for other illnesses.A deficiency in the LIPA enzyme leads to access storage of macrolipids and specific complex carbohydrates called macropolysaccharides in the cells of various tissues. Clinical manifestations include hepatic steatosis, hepatomegaly, and fibrosis, resulting in micronodular cirrhosis of the liver. Patients are often not properly diagnosed with CESD until they are adults. Case presentation:51 years old female presented to my clinic for uncontrolled complicated type 2 diabetes. After reviewing her medical history, she noted, she and her sister have a rare condition called CESD. She was not aware of any treatment available and currently on atorvastatin 80 mg daily, evolocumab 140 mg every 14 days, and ezetimibe 10 mg daily.She follows up with hepatologist and cardiologist for annual imaging and monitoring the progression of her condition. She gets FibroScan annually. Her last scan indicated fibrosis score of 4/ FIB-4 index 1.58, meaning intermediate risk of advanced fibrosis.Lab: AST 46, ALT 52, total cholesterol 137, LDL 59, HDL 57, TG 119Recent abdominal CT showed fatty liver disease with mild hepatomegaly.Physical exam: slightly enlarged liver noted.After reviewing all labs and imaging, I started her on sebelipase alfa 1mg/kg/dose IV every 14 days, and will follow up every 6 months. Discussion: CESD is an autosomal recessive disorder that is inherited affecting male and female sexes equally.Abnormally reduced activity of acid lipase, a lysosomal enzyme that hydrolyzes triglycerides and cholesterol esters, is the hallmark of this condition. About half of the patients have hepatic fibrosis at the time of diagnosis. Hepatic cirrhosis and liver failure, along with portal hypertension and resulting esophageal varices often occur in advanced stages.When distinguishing clinical signs, such hepatomegaly, CESD dx may be suspected. A comprehensive exam, full patient history, and specialized testing that identify low LIPA enzyme activity in specific body cells and tissues can all be used to confirm a diagnosis. Most common gene variant, E8SJM, if negative sequencing of LIPA gene is done.Baseline evaluation of lipid biomarkers, echocardiogram, stress test, liver function tests, liver biopsy, kidney function biomarkers, complete blood count, coagulation tests, and sebelipase antibody testing. Genetic counseling is recommended for close family members.In 2015 FDA approved a new medication which is an enzyme replacement therapy called sebelipase alfa. It is administered by IV infusion every 2 wks. Presentation: 6/3/2024
Source: Journal of the Endocrine Society
Authors: N Ebrahimi, R Cardenas Lara, S Tariq
Institution: University of Arizona
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,418
OpenAlex ID: W4403149058