NAFLD and haemochromatosis

Question 1

What is the global prevalence of NAFLD?

Answer 1

24%

Question 2

Which gene is associated with NAFLD in hispanic populations?

Answer 2

PNPLA3

Question 3

How is NAFLD usually diagnosed?

Answer 3

via US initially then fibroscan to diagnose fibrosis and consider biopsy to diagnose NASH

Question 4

How elevated are AST and ALT in NAFLD?

Answer 4

2-5x upper limit of normal with AST:ALT < 1

Question 5

What is the most common cause of death among patients with NAFLD?

Answer 5

cardiovascular disease

Question 6

Is there a benefit of statin therapy for NAFLD?

Answer 6

no proven benefit to liver disease in an RCT however reduces risk of cardiovascular events

Question 7

Is there a benefit of metformin for NAFLD?

Answer 7

improves aminotransferases and insulin sensitivity but not liver histology

Question 8

Is there a benefit of pioglitazone for NAFLD?

Answer 8

improves histologic parameters in NASH however significant side effects of weight gain, heart failure exacerbation, osteoporosis, bladder ca

Question 9

Is there a benefit of vitamin E for NAFLD?

Answer 9

has demonstrated benefit in NASH resolution for non diabetic patients however adverse effects haemorrhagic stroke and prostate cancer

Question 10

What is obeticholic acid?

Answer 10

An FXR (bile acid receptor) agonist shown to improve NASH and fibrosis in clinical trials

Question 11

What is the most common genetic cause of hereditary haemochromatosis?

Answer 11

homozygous mutations in the HFE gene

Question 12

What is the penetrance of homozygous HFE gene mutation C282Y/C282Y?

Answer 12

10-30%