Jeffrey Teckman

OVERVIEW: What every practitioner needs to know Are you sure your patient has alpha-1-antitrypsin deficiency? What are the typical findings for this disease? Alpha-1-antitrypsin (a1AT) deficiency is an autosomal, co-dominant genetic disease most commonly caused by homozygosity for the Z mutant of the a1AT gene. These patients are called ZZ, or PIZZ in WHO nomenclature.…

There is a wide variability in the clinical presentation of patients with Wilson Disease (WD). The most common manifestations are due to liver disease. In fact, WD may present with almost any clinical variety of hepatic abnormality. The next most common clinical manifestations are neuropsychiatric. In patients with WD presenting as an acute hepatitis, aminotransferase…