Cobalamin and iron deficiency still presents a challenge in hereditary hemorrhagic telangiectasia

Cobalamin and iron deficiency still presents a challenge in hereditary hemorrhagic telangiectasia

Abstract Hereditary hemorrhagic telangiectasia (HHT) leads to fragile blood vessels, causing frequent bleeding and anemia. Treatment mainly addresses iron levels and substitution. Although cobalamin (vitamin B12) is routinely tested in chronic anemia, its role in HHT has not been studied until now....

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Main Authors: Marie Carolin Schleupner, Alexander Röth, Luise Adam, Nadia Sadok, Felicia Toppe, Antonia Klara Lakomek, Sami Wainwright, Noemi Voss, Lukas Boosfeld, Christina Kaiser, Julia Garvert, Stephan Lang, Urban Geisthoff, Freya Droege
Format: Article
Language:English
Published: Nature Portfolio 2025-08-01
Series:Scientific Reports
Subjects:
HHT
Anemia
Cobalamin deficiency
Iron deficiency
Transfusions
Online Access:https://doi.org/10.1038/s41598-025-13911-6
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Summary:Abstract Hereditary hemorrhagic telangiectasia (HHT) leads to fragile blood vessels, causing frequent bleeding and anemia. Treatment mainly addresses iron levels and substitution. Although cobalamin (vitamin B12) is routinely tested in chronic anemia, its role in HHT has not been studied until now. This study examined its prevalence and related symptoms in HHT patients. Data from HHT patients treated between July 2019 and November 2022 were analyzed. Patients with cobalamin levels under 400 pg/ml underwent further testing and questioning. Among 155 patients, 42% were anemic, and 45% had cobalamin levels below 400 pg/ml. However, only 7 patients had a confirmed deficiency. Still, many reported symptoms commonly but not specifically linked to cobalamin deficiency, even with low-normal levels. Gastrointestinal lesions were significantly associated with these low-normal values (p = 0.027). Furthermore, 59% of patients had iron deficiency, and 67% were not receiving iron therapy at the time of their visit. This study is the first to show that true cobalamin deficiency is not more common in HHT than in the general population, though low-normal levels are frequent. In case of unexplained symptoms, evaluating cobalamin levels should be taken into consideration.
ISSN:2045-2322

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