Sensibilisierung für eine seltene Erkrankung über einen Übersichtsartikel im Deutschen Ärzteblatt

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare disease with nasal telangiectases leading to nosebleeds, pulmonary arteriovenous malformations (PAVMs) to strokes by paradoxical emboli. According to the international guidelines (1), a screening for PAVMs is recommended for all patients with definite or potential diagnosis of HHT to decrease morbidity and increase life expectancy (2). However, there is currently a diagnostic latency of 18 years in Germany (3), probably delaying the recommended screening. 2018 an article in the set book for dentists (4) lead to an increased awareness for HHT (5). We wanted to figure out if an article in the set book for all physicians in Germany (6) can lead to a similar effect.

Material and methods: In May 2023 the nationwide German self help group started to register new patient contacts. On September 6th 2024 a review article together with CME questions was published in the set book for all German physicians (6). Additionally, all members of the self-help group received a printed special version to hand over to a physician of their choice.

Results: From beginning of May 2023 to end of October 2024 a total of 37 contacts was registered by the self-help group. Comparing the months September and October of 2023 to 2024 there no clear change or trend could be observed.

Discussion: First results of our awareness campaign did not demonstrate an effect, as we had seen before for the campaign among dentists. It is unclear if a delayed effect will be visible. Data of the following months will be evaluated.

Faughnan et al. J Med Gen 2011, 2. de Gussem et al. J Clin Med 2020, 3. Dröge et al. Laryngorhinootologie 2021, 4. Geisthoff et al. ZM 2018, 5. Geisthoff et al. Int J Dent 2023, 6. Geisthoff et al. Dtsch Ärzteblatt 2024

Apart from affiliations listed: UG is member of the Global Research and Medical Advisory Board of CureHHT, Monkton, U.S.A., and chairman of the board of trustees of Osler Stiftung.