Chapter 42 A FAMILY HISTORY OF LIVER DISEASE
WILSON’S DISEASE
Clinical features
Hepatic
Diagnosis
Liver biopsy: hepatic Cu concentration >250 μg/g dry tissue (normal less than 50 μg/g).
Treatment
Trientine: second-line therapy. Less potent Cu chelator. Sideroblastic anaemia a major side effect.
Zinc: used mainly in presymptomatic patients as maintenance therapy and in combination therapy.
Liver transplantation: transplant recipients have an excellent long-term prognosis because the underlying biochemical defect is corrected.
ALPHA1-ANTITRYPSIN DEFICIENCY (A1-ATD)
Clinical manifestations
Liver disease
Liver disease encompasses chronic hepatitis, cirrhosis and hepatocellular carcinoma. α1-ATD should be considered in any adult who presents with the above diseases of unknown aetiology. α1-ATD is usually diagnosed early in life (4–8 weeks of life) presenting as persistent jaundice with raised liver transaminases and bilirubin.
Investigations: serum concentrations of α1-AT and detection of defective α1-ATZ alleles.