Cholesterol Ester Storage Disease, Non-alcoholic Fatty Liver Disease
Conditions
Brief summary
Non-alcoholic fatty liver disease (NAFLD) is a world-wide problem with a global prevalence estimated at 1.5 billion people. It is characterised by significant diversity and phenotypic heterogeneity. Morbidity rates are estimated at 20% to 30% in Western adults, increasing to 90% in patients who are morbidly obese or diabetic. Risk factors in non-obese NAFLD patients are of especial practical and theoretical importance. Cholesterol Ester Storage Disease (CESD) is an autosomal recessive chronic disease of variable phenotype, caused by a deficiency in lysosomal acid lipase (LAL) and characterized by accumulation of fat in tissues and organs. Hepatic accumulation of fat in this disorder can cause hepatomegaly with varying degrees of damage varying from steatosis to fibrosis, elevated aminotransaminases, and isolated splenomegaly. Since the contribution of LAL deficiency to non-obese NAFLD is poorly understood, the investigators propose to evaluating the association between NAFLD and LAL deficiency in a prospective study in our population.
Interventions
None listed
Sponsors
Assy Nimer
Study design
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
* Age between 18-80 years; * BMI 25-40; * Fatty liver disease (bright liver, hepatomegaly by ultrasound (Liver span \> 15 cm mid clavicle line), splenomegaly (\>13 cm) or both.
Exclusion criteria
* Alcohol abuse\>30 gm/day, or \> 70 gram per week; * Soft drink abuse; * Drugs known to cause fatty liver; * Chronic hepatitis (B and C); * Biliary liver disease; * Autoimmune hepatitis; * HIV; * Genetic/Metabolic liver disease (Wilson, alpha-1 antitrypsin, CF); * Failure to give informed consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| liver ultrasound, ultrasound Doppler of the common carotid artery, hepatic Fibroscan evaluation (transient elastography) for assessment of steatosis and fibrosis | year |
Countries
Israel
Contacts
Primary ContactNimer Assy, M
Outcome results
None listed