Main description:

This Monograph offers a comprehensive and up-to-date overview of AATD. It covers basic biology, genetics, laboratory diagnostics and the major organ manifestations; describes the clinical presentation of AATD in both adults and children; and features chapters on genetic counselling, patient views and future therapies. The content has been tailored to meet the needs of the physician, who takes care of lung and liver patients in daily practice, and the general practitioner, who is responsible for the medical guidance of these patients.

Contents:

Patient view; Serpinopathies; Genetics and epidemiology; Laboratory diagnosis; Mechanisms of lung disease; Clinical approach to diagnosis and assessment; Treatment of lung disease; Mechanisms of liver disease; Clinical approach to paediatric liver disease; Clinical approach to liver disease in adults; Rare manifestations; Genetic counselling; Registries: roles, objectives and registry data study outcomes; Future directions: diagnostic approaches and therapy with AAT