RESUMO
Congenital Dyserythropoietic Anemia type I (CDA I) is a rare hereditary condition characterized by macrocytic/normocytic anemia, splenomegaly, iron overload, and distinct abnormalities during late erythropoiesis, particularly internuclear bridges between erythroblasts. Diagnosis of CDA I remains challenging due to its rarity, clinical heterogeneity, and overlapping phenotype with other rare hereditary anemias. In this case series, we present 36 patients with suspected CDA I. A molecular diagnosis was successfully established in 89% of cases, identifying 16 patients with CDA I through the presence of 18 causative variants in the CDAN1 or CDIN1 genes. Transcriptomic analysis of CDIN1 variants revealed impaired erythroid differentiation and disruptions in transcription, cell proliferation, and histone regulation. Conversely, 16 individuals received a different diagnosis, primarily pyruvate kinase deficiency. Comparisons between CDA I and non-CDA I patients revealed no significant differences in erythroblast morphological features. However, hemoglobin levels and red blood cell count differed between the two groups, with non-CDA I subjects being more severely affected. Notably, most patients with severe anemia belonged to the non-CDA I group (82% non-CDA I vs. 18% CDA I), with a subsequent absolute prevalence of transfusion dependency among non-CDA I patients (100% vs. 41.7%). All patients exhibited reduced bone marrow responsiveness to anemia, with a more pronounced effect observed in non-CDA I patients. Erythropoietin levels were significantly higher in non-CDA I patients compared to CDA I patients. However, evaluations of erythroferrone, soluble transferrin receptor, and hepcidin revealed no significant differences in plasma concentration between the two groups.
RESUMO
Combining therapeutic patient education (TPE) with a medication review service could foster the adoption of appropriate lifestyles by patients and support care-providers in identifying strategies to improve the quality of prescribed care. This study aimed to identify barriers experienced by patients in managing their diseases and medication-related problems. This was a monocentric, case series, observational study involving home-care patients from the Local Health Authority ASL TO4. Patients were enrolled for a TPE intervention where drug therapies and patient habits were collected through narrative interviews. Medication review was performed to identify potentially inappropriate prescriptions (PIPs). Twenty patients (13 females) with a mean age of 74.7 years were enrolled. Patients had an average of 4.3 diseases and 80.0% of them were treated with ≥5 daily medications. The main PIPs involved ibuprofen, furosemide and pantoprazole. The qualitative analysis of the interviews identified seven macro-themes relating to different aspects of medication management: therapy; diseases; patient; patient journey; professionals; family and caregivers; drug information. The results of this study revealed some critical aspects related to the treatment path and healthcare professionals. These results will be used to plan educational interventions for polypharmacy patients to improve medication adherence and the understanding and management of diseases.
