Acta Medica Port
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Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining underdiagnosed. ⋯ Nevertheless, some important matters are yet to be included in those, mainly due to lack of robust scientific evidence, and continue to represent a point of discussion. This article reviews some important scientific publications and expresses the perspectives of a group of Portuguese experts regarding the management of alpha 1-antitrypsin deficiency, namely in terms of the pre and neonatal diagnosis, the impact of the COVID-19 pandemic, the validity of replacement therapy in lung transplant-receiving, and finally, alternative strategies of alpha 1-antitrypsin deficiency treatment to improve the patients' quality of life.
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Acute myeloid leukemia (AML) is a hematopoietic malignancy characterized by clonal proliferation, with increased incidence with advancing age. AML with myelodysplasia-related changes (AML-MRC) represents an AML subtype with a poor prognosis and challenging treatment, particularly in elderly patients. We report the case of a 77-year-old patient diagnosed with high-risk AML-MRC, ineligible for intensive chemotherapy, with frequent need of transfusion of red cell concentrates. The authors present, to the best of their knowledge, the first patient in Portugal with AML-MRC treated with an hypomethylating agent, azacytidine, and a BCL2 inhibitor (venetoclax), and that association was essential in the treatment and overall survival, which was much higher than expected.