Gut Instincts: A Clinician's Handbook of Digestive and Liver Diseases

Eric Esrailian, MD, MPH

Chapter 37: Hereditary Liver Diseases (continued)

Fasiha Kanwal, MD, MSHS

There are several liver disorders that result from inborn errors of metabolism. This chapter will cover hereditary metabolic diseases of the liver: hereditary hemochromatosis (HH), Wilson’s disease, and α-1 antitrypsin deficiency (diagnostic tests summarized in Table 37-1) because these may be encountered by the practicing gastroenterologist. HH comprises several inherited disorders of iron homeostasis characterized by increased intestinal iron absorption that results in tissue iron deposition. The most common form of HH is hemochromatosis gene (HFE)-related HH. It is an autosomal…