Background: Alpha1- antitrypsin deficiency (AATD) is a genetic disorder primarily affecting the lungs and liver of affected individuals, causing severe panlobular emphysema and cirrhosis. Objective: To describe the de...Background: Alpha1- antitrypsin deficiency (AATD) is a genetic disorder primarily affecting the lungs and liver of affected individuals, causing severe panlobular emphysema and cirrhosis. Objective: To describe the demographics and feasibility of a home test for AATD in children and adolescents. Design: Case series of parents who test their children for AATD. Setting: Nonprofit supported program in which participants telephoned or e- mailed requests for alpha1- antitrypsin testing. Participants: All persons younger than 18 years whose parents or guardians chose to test for AATD from January 1, 2002, to October 1, 2004. Interventions: Home- administered finger- stick blood spot test for alpha1- antitrypsin genotype and questionnaire. Main Outcome Measures: The alpha1- antitrypsin genotypes and questionnaire responses. Results: The Alpha Coded Testing Study tested 422 children and adolescents with a confidential test for AATD. Testing was suggested by a family member in most (76.7% ) of the cases and was responsible for the many carrier (PIMZ and PIMS) genotypes (51.9% ) in the study. Interest in testing was equally distributed among all ages. Test confidentiality was seen as an important reason to test (64.1% with a Likert scale score of 4- 5 on a 5- point scale). Parents and guardians of the minors suggested that testing benefits (mean [SD] Likert score, 3.5 [1.4] on a 5- point scale) were higher than risks (mean [SD] Likert score, 1.7 [1.2]) (P=0.001). Conclusion: Parents value genetic testing of their children at risk for AATD when testing can be done in a confidential setting.展开更多
Background: Dermatologists, or pathologists, occasionally need to decide whether or not to continue methotrexate therapy in a patient with an identifiable risk factor for liver fibrosis, in this instance heterozygous ...Background: Dermatologists, or pathologists, occasionally need to decide whether or not to continue methotrexate therapy in a patient with an identifiable risk factor for liver fibrosis, in this instance heterozygous α1-antitrypsin deficiency. Case Presentation: We relate our experience with an elderly male patient, diagnosed as having α1-antitrypsin deficiency on a liver biopsy, genotypically confirmed as PiMZ. He had been receiving methotrexate for psoriasis for 17 years with a cumulative dose of 7,200 mg. He was monitored by biochemical profiling and interval (10) liver biopsies. Non-specific changes were seen on liver histology although grade 1 liver fibrosis was seen in his last 2 biopsies. Conclusion: We suggest that methotrexate therapy is relatively safe in patients with heterozygous α1-antitrypsin deficiency, with no other risk factor. We however advise that the risk of fibrosis should be monitored and that the patient receives appropriate counselling.展开更多
文摘Background: Alpha1- antitrypsin deficiency (AATD) is a genetic disorder primarily affecting the lungs and liver of affected individuals, causing severe panlobular emphysema and cirrhosis. Objective: To describe the demographics and feasibility of a home test for AATD in children and adolescents. Design: Case series of parents who test their children for AATD. Setting: Nonprofit supported program in which participants telephoned or e- mailed requests for alpha1- antitrypsin testing. Participants: All persons younger than 18 years whose parents or guardians chose to test for AATD from January 1, 2002, to October 1, 2004. Interventions: Home- administered finger- stick blood spot test for alpha1- antitrypsin genotype and questionnaire. Main Outcome Measures: The alpha1- antitrypsin genotypes and questionnaire responses. Results: The Alpha Coded Testing Study tested 422 children and adolescents with a confidential test for AATD. Testing was suggested by a family member in most (76.7% ) of the cases and was responsible for the many carrier (PIMZ and PIMS) genotypes (51.9% ) in the study. Interest in testing was equally distributed among all ages. Test confidentiality was seen as an important reason to test (64.1% with a Likert scale score of 4- 5 on a 5- point scale). Parents and guardians of the minors suggested that testing benefits (mean [SD] Likert score, 3.5 [1.4] on a 5- point scale) were higher than risks (mean [SD] Likert score, 1.7 [1.2]) (P=0.001). Conclusion: Parents value genetic testing of their children at risk for AATD when testing can be done in a confidential setting.
文摘Background: Dermatologists, or pathologists, occasionally need to decide whether or not to continue methotrexate therapy in a patient with an identifiable risk factor for liver fibrosis, in this instance heterozygous α1-antitrypsin deficiency. Case Presentation: We relate our experience with an elderly male patient, diagnosed as having α1-antitrypsin deficiency on a liver biopsy, genotypically confirmed as PiMZ. He had been receiving methotrexate for psoriasis for 17 years with a cumulative dose of 7,200 mg. He was monitored by biochemical profiling and interval (10) liver biopsies. Non-specific changes were seen on liver histology although grade 1 liver fibrosis was seen in his last 2 biopsies. Conclusion: We suggest that methotrexate therapy is relatively safe in patients with heterozygous α1-antitrypsin deficiency, with no other risk factor. We however advise that the risk of fibrosis should be monitored and that the patient receives appropriate counselling.
