Genetics' influence on patient experiences with a rare chronic disorder: a photovoice study of living with alpha-1 antitrypsin deficiency.

Patients with rare chronic disorders and their caregivers increasingly form communities to support and exchange social experiences. Because up to 10% of the United States population is affected by one of 5000 to 6000 rare disorders, efforts to understand the individuals and affected communities are important. This study was conducted using community-based participatory research approaches within a community of patients and caregivers living with alpha-1 antitrypsin (AAT) deficiency. Patient populations at some risk for lung transplant include individuals who smoked cigarettes and patients who underwent liver transplant in infancy and later adulthood due to accumulation of misfolded AAT within hepatocytes.

Diagnosing alpha 1-antitrypsin deficiency.

Alpha 1-antitrypsin deficiency is a genetically transmitted disorder associated with an increased risk of emphysema and liver disease. The highest incidence occurs in whites of Northern European descent; the disorder affects between 70,000 and 100,000 individuals in the United States. Most persons with alpha 1-antitrypsin deficiency are misdiagnosed or undiagnosed. The laboratory tests used to screen for and diagnose the disorder are simple, inexpensive, and provide an opportunity to prevent the development of clinical disease through education about cofactor avoidance. This article provides a review of the epidemiology, genetics, and clinical presentation of this disorder.

Alpha 1-antitrypsin deficiency and the impact of nursing interventions and treatment with intravenous therapy. An overview.

The primary function of alpha1-antitrypsin is to protect the alveoli in the lung from harmful destruction from proteolytic enzymes, which prevent optimal elastic recoil of the lungs and destroy the lungs. Insufficient serum levels of alpha1-antitrypsin eventually lead to early onset of emphysema in the third, fourth, or fifth decade of life. Treatment of alpha1-antitrypsin deficiency by intravenous administration of an enzyme inhibitor known as alpha1-proteinase inhibitor, a human-derived blood product, can be administered to help replace the enzymes required to maintain lung function. Early detection, nursing intervention, and clinical management slow the progression of this hereditary disease.