TY - JOUR T1 - Case detection of α<sub>1</sub>-antitrypsin deficiency: does it help the patient or the doctor? JF - European Respiratory Journal JO - Eur Respir J SP - 561 LP - 562 DO - 10.1183/09031936.05.00091405 VL - 26 IS - 4 AU - J. Stolk Y1 - 2005/10/01 UR - http://erj.ersjournals.com/content/26/4/561.abstract N2 - Alpha1-antitrypsin (α1-AT) deficiency is a common genetic disorder, with homozygous genotype Z as the most relevant deficient type for clinicians. In some parts of Europe, this phenotype is as prevalent as cystic fibrosis and for both disorders there is presently no cure for the disease, which has implications for genetic testing in many countries. In 2003, the European Respiratory Society and American Thoracic Society published a joint statement of standards for diagnosis and management of individuals with α1-AT deficiency 1. Recently, a full chapter on genetic testing addressed the pros and cons of this issue. In pulmonary practice, diagnostic testing of a single case with onset of symptoms related to chronic obstructive pulmonary disease (COPD) at early age is most frequently performed. Predispositional detection of the related family of the newly detected case is already more questionable and relates to the care that doctors can provide to cases detected by family screening. Case detection is somewhat different from screening, as screening activity is usually employed for subjects with no symptoms of disease. Public health authorities often only allow for (neonatal) screening if it … ER -