A 16-year-old girl with advanced cirrhosis and severe alpha 1-antitrypsin deficiency of the homozygous Pi ZZ phenotype was treated by orthotopic liver transplantation. After replacement of the liver with a homograft from a donor with the normal Pi MM phenotype, the alpha 1-antitrypsin concentration in the recipient's serum rose to normal; it had the Pi MM phenotype. Two and a third years later,...

Alpha-1-Antitrypsin (AAT) deficiency associated panniculitis is commonly included in the dermatologist's differential diagnosis but the disease is rarely ever diagnosed or discussed. The pathophysiology, clinical presentation, histopathology, diagnosis, and treatment of AAT deficiency panniculitis will be reviewed.

alpha(1)-Antitrypsin (AAT) deficiency is a common but under-recognised condition. Since its first description by Laurell and Eriksson in 1963, significant advances have been made in understanding the genetics, physiology and pathophysiology of this condition. The intravenous administration of purified AAT to AAT-deficient individuals has been shown to confer biochemical efficacy by raising the ...

Alpha-1-antitrypsin deficiency was first identified in 1963, together with its association with the early onset of severe lower zone emphysema. Although the mechanisms for the development of emphysema were not clearly understood, it was reasonably assumed that the alveolar destruction was a direct consequence of the release of neutrophil elastase which was then able to digest lung connective ti...

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Patient-advocacy organizations have proliferated because they can be an effective method to advance research and clinical care for those with the index condition, and can produce substantial benefits for the affected community, especially when the condition is uncommon. To clarify critical success factors in organizing a patient-advocacy organization and to provide a blueprint for others, inclu...

This case study describes a successful pregnancy in a 27-yr-old patient with severe emphysema, secondary to a1-antitrypsin deficiency, genotype PiZZ. Despite significant respiratory compromise, more severe than previously reported, no complications ensued. Maternal pulmonary function did not deteriorate significantly until the 32nd week of pregnancy, with an elective Caesarean section being per...

In this review article, in addition to the clinical manifestation of the alpha 1 antitrypsin deficiency, the genetics and molecular diagnosis of the disease and the effects of the causative mutations were reviewed.

BACKGROUND A congenital cause of emphysema resulting from alpha 1-antitrypsin (A1AT) deficiency affects 1 in 2500 individuals and could account for emphysema in 2 percent of all persons with emphysema. Individuals aged 30 to 45 years with chronic shortness of breath and coughing could have A1AT deficiency. METHODS Using the key words "alpha 1-antitrypsin deficiency," "chronic obstructive pulm...