0000000000358985
AUTHOR
Alexander Roeth
Development Of a Disease Specific Quality Of Life Questionnaire For Patients With Aplastic Anemia and/Or Paroxysmal Nocturnal Hemoglobinuria (QLQ-AA/PNH)
Abstract Introduction Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH) are ultra-rare diseases with a yearly incidence 2 to 4 per million (AA) and of 1.3 to 2 per million (PNH. While much is known about pathophysiology and treatment of these interrelated diseases, less is known about patients (pts.) psycho-social issues. Quality of life (QoL) evaluation tools used in all studies for AA and PNH are rather unspecific and were initially designed for cancer patients (e.g. the European Organization of Research and Treatment (EORTC) QLQ-C30). Given the complexity of AA and PNH, the variation in symptoms and different treatment approaches (immunosuppression, bone marrow …
Clinical Presentation of Patients with Adult Late-Onset Telomere Biology Disorders - Results from the Aachen Telomeropathy Registry
Abstract Introduction: Telomere biology disorders (TBD) are caused by mutations affecting proper telomere maintenance resulting in premature telomere shortening. Telomere length (TL) assessment is currently being used for screening and diagnosis of TBD of which Dyskeratosis congenita (DKC) is the most prominent TBD subtype typically found in children and adolescents. In adults, TBDs are characterized by a broad spectrum of more "cryptic" diverging mono- or oligosymptomatic clinical manifestations such as bone marrow failure (BMF), hepatopathy or interstitial lung disease (ILD). However, despite growing general clinical awareness and exertion of improved TL screening strategies, insufficient…