What is it about?
Alpha1-antitrypsin deficiency is a rare genetic disease. Lung involvement develops mainly as emphysema and early signs of the disease are hard to detect. Once diagnosed the missing molecule can be provided to the patients. The article provides a report of a survey with experts about their attitudes on the diagnosis and treatment.
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Why is it important?
It is a rare disease, therefore the knowledge of medical doctors varies about it. Due to differneces in health care systems the diagnositic and therapeutics possibilities vary. Assessing these differences and the shared opinion of experts brings required steps for further developmnets into light.
Perspectives
Contributing to this article was a great pleasure and grew my commitment to develop further understanding and developing the field of this rare disease. I wish that reading it you will find it interesting and it facilitates your thinking on the area of rare diseases.
Prof. Dr. Ildiko Horvath
University of Debrecen
Read the Original
This page is a summary of: Diagnosis and management of α1-antitrypsin deficiency in Europe: an expert survey, ERJ Open Research, February 2019, European Respiratory Society (ERS),
DOI: 10.1183/23120541.00171-2018.
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Contributors
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