Skip to main content
24/07/2014

VHIR coordinates the implementation of a diagnostic tool for Alpha-1 antitrypsin deficiency screening

2014_0168_2014_0168_IMATGE

24/07/2014

Dr. Marc Miravitlles leads the research at the Catalan Center of AATD, linked with the Pneumology Service

The "http://www.centrealfa1.org/?page_id=554" Catalan Center of AATD, associated to the Pneumology Service and the research group at Vall d’Hebron Institute of Research (VHIR), is one of the coordinators of an international study for the implementation and validation of a diagnostic in vitro tool for Alpha-1 antitrypsin Deficiency (AATD) screening. The technique, called AlphaKit QuickScreen, provides information about the presence of the most frequent deficient mutation by capillary blood obtained from the fingertip in the outpatient clinic and within 15-30 minutes.The study is also coordinated by the Marburg Hospital in Germany and also participate the Biochemistry laboratories at Vall d’Hebron. The aim of is to allow the diagnosis of this rare disease to physicians who work in chronic obstructive pulmonary disease (COPD). With the new technique, Dr. Marc Miravitlles, coordinator of the Catalan Center of AATD, is convinced that "we will help with the prevention and treatment of lung emphysema, which is the most severe complication of the disease”. AATD is an inherited disease characterized by low levels of AAT and an increased risk of developing liver disease and emphysema at an early age. Despite it is one of the most common genetic diseases, it has an important underdiagnosis: to the Spanish registry estimates that only 4% of the cases in Spain have already been diagnosed.The laboratory diagnosis is performed by the quantitative determination of AAT in serum and the determination of the corresponding phenotype. Scientific societies and the World Health Organization recommend to perform a determination of AAT to every patient with COPD. However, Dr. Miravitlles alerts that “factors such as the lack of knowledge about the disease or methods and diagnosis paths can contribute to not perform”. The Catalan Center of AATD launched a "http://www.centrealfa1.org/?page_id=554" new website with more information about the disease and their projects.

Subscribe to our newsletters and be part of the Campus life

We are a world-leading healthcare complex where healthcare, research, teaching and innovation go hand in hand.

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.