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...

Forty-two cases of hepatocellular carcinoma (HCC) were examined for the presence of the inclusions of alpha-1-antitrypsin (AAT), which indicate a carrier state for the Pi Z gene. These were found in the non-neoplastic liver tissue of two cases of HCC and in one of the 98 control livers, a difference that is not statistically significant. Typical globules of AAT deficiency were not found in HCC ...

Alveolar macrophages lavaged from human lungs contain protease activity at an optimum pH of 3.0 and possibly a lesser peak of activity at pH 5.5. Protease activity measured at pH 4.1 is inhibited by purified alpha-1-antitrypsin. Fluorescent antibody studies of human alveolar macrophages showed that alpha-1-antitrypsin is present in normal alveolar macrophages. In addition, macrophages from a pa...

In 11 128 apparently healthy 18-year-old men screened for alpha 1-antitrypsin deficiency (AATD) 44 had an alpha 1-antitrypsin (AAT) level of 50% or less of the transferrin reference. In 42 of the 44 the Pi types were: five Pi Z, 10 Pi SZ, three Pi MZ, one presumptive Pi M-, one Pi FM, and 22 Pi M. Probably all Pi Z and most of the Pi SZ subjects were identified. The transferrin reference, howev...

BACKGROUND Previous estimates of the survival times of patients with alpha 1-antitrypsin deficiency have been based on selected patients. METHODS The survival times of 397 patients with severe alpha 1-antitrypsin deficiency identified by pulmonary impairment (index cases) or through family studies (non-index cases) were compared. RESULTS The overall median survival time was 54.5 years with ...

Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsi...

BACKGROUND Alpha-1 antitrypsin deficiency is a genetic disease which affects both lung and liver. This disease is a recognized factor for chronic obstructive pulmonary disease (COPD). However its importance as the cause of COPD in a country such as Iran is unclear. OBJECTIVES This study was conducted to find out the role of α-1 antitrypsin deficiency as a cause of COPD in Iranian patients. ...

Discovery of AAT deficiency by Laurell and Eriksson in 1963 [2] provided a foundation for current thinking about the pathogenesis of pulmonary emphysema [3,4]. Although AAT deficiency has become one of the best understood genetic disorders at a molecular and protein level, many questions about the clinical disease remain unanswered. Current American and International research projects should pr...

Alpha 1 antitrypsin deficiency is a hereditary condition characterized by low alpha 1 proteinase inhibitor (also known as alpha 1 antitrypsin [AAT]) serum levels. Reduced levels of AAT allow abnormal degradation of lung tissue, which may ultimately lead to the development of early-onset emphysema. Intravenous infusion of AAT is the only therapeutic option that can be used to maintain levels abo...

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 ...