Alpha1-antitrypsin deficiency (AATD) is an inherited condition that predisposes individuals to an increased risk of developing lung and liver disease. Even though AATD is one of the most widespread inherited diseases in Caucasian populations, only a minority of affected individuals has been detected. Laboratory diagnosis of AATD currently consists of serum biochemical analyses to evaluate protein deficiency and electrophoretic abnormalities, as well as genetic analysis to identify gene variants responsible for the protein deficiency. In some circumstances, serum protein electrophoresis (SPE), as a low-cost investigation for routine check-ups or for diagnosing several other conditions, could raise the suspect of AATD to be confirmed by specific investigations.
Dr Ferrarotti is Assistant Professor in Laboratory Medicine at the University of Pavia, Department Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Italy. She conducts research, lectures, and coordinates the diagnostic activity of the Reference Centre of Diagnosis of Alpha-1 Antitrypsin Deficiency.
After degree in Biology and a post-graduate degree in Clinical Biochemistry, she has worked as a research scientist within the Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Her main areas of scientific interest include the genetics of respiratory diseases, in particular Alpha 1 Antitrypsin Deficiency and chronic obstructive pulmonary disease