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Working to Create Awareness and Point to New Opportunities in Treating AATD Patients
Approximately 1 in 30 of people of western European descent will be carriers for the severe deficiency allele of the alpha-1-antitrypsin (AAT) gene. Individuals who carry two copies of the deficiency gene are predisposed to childhood liver disease and, particularly in smokers, pulmonary emphysema in adult life.
Severe alpha-1-antitrypsin deficiency (AATD) is under-recognized even by experienced physicians with a mean time from first symptoms to diagnosis being 7 years and the number of diagnosed cases compared to the expected number of cases in the population is often less than 3% in many countries. Identifying all AATD subjects and the availability of preventive measures and new treatments are expected to improve health outcomes.
Physicians and researchers will discover the impact of understanding the detailed 3-dimensional structure of AAT and how this is impacting on new strategies for treatment, and understand better the diverse biological functions of the protein. New approaches to gene therapy and clinical trials for AATD are described with opportunities for correction of the genetic defect and improved outcomes for patients. Physicians will understand the natural history of the disease and the variable phenotype. These will impact on patient outcomes by both creating awareness of the condition and pointing to new opportunities for treating AATD patients.
This chapter describes the worldwide prevalence of AATD, the natural history and epidemiology of the condition and the diverse presentation of AATD subjects from being well to severe debilitating disease. The importance of identifying a large percentage of individuals who unknowingly have severe AATD is highlighted, as much could be done to advise, counsel and treat these individuals.
About the author:
Professor Noor Kalsheker has been involved in AAT research over a period of nearly 30 years. His focus has been understanding the genetics of the condition, how the AAT gene is regulated and in identifying new rare variants. He became interested in the topic having encountered a patient with AATD with lung disease in their 40s when he was a junior doctor. He was struck by the severity of this condition and how little was understood. It seemed remarkable, at the time, that a single alteration in the AAT molecule could have such a profound impact on health. Significant progress has been made through the years in learning about the natural course of the disease, the diverse manifestations and our understanding of why these occur. All these findings impact patient outcomes. Professor Kalsheker feels obligated to educate patients with the condition, physicians who would like to know more, as well as researchers in the field, to help advance research and future hope for the condition. LinkedIn, Twitter @nakalshe and Facebook
About the book:
Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies covers the disease from basic biology and epidemiology, to clinical impact, and includes the understanding of the natural history of the disease and the significant advances that have been made in the last 20 years, including the three-dimensional structure of the molecule, its broad biological activity and improved therapeutic options, including replacement therapy and gene therapy.
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