Schleupner Marie Carolin, Röth Alexander, Adam Luise, Sadok Nadia, Toppe Felicia, Lakomek Antonia Klara, Wainwright Sami, Voss Noemi, Boosfeld Lukas, Kaiser Christina, Garvert Julia, Lang Stephan, Geisthoff Urban, Droege Freya
VASCERN HHT Reference Centre, Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, Hufelandstraße 55, 45147, Essen, Germany.
Clinic for Internal Medicine and Hematology, University Hospital Essen, Essen, Germany.
Sci Rep. 2025 Aug 4;15(1):28463. doi: 10.1038/s41598-025-13911-6.
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.
遗传性出血性毛细血管扩张症（HHT）会导致血管脆弱，引发频繁出血和贫血。治疗主要针对铁水平和替代治疗。尽管钴胺素（维生素B12）在慢性贫血中通常会进行检测，但迄今为止其在HHT中的作用尚未得到研究。本研究调查了HHT患者中钴胺素的患病率及相关症状。分析了2019年7月至2022年11月期间接受治疗的HHT患者的数据。钴胺素水平低于400 pg/ml的患者接受了进一步检测和询问。在155名患者中，42%患有贫血，45%的患者钴胺素水平低于400 pg/ml。然而，只有7名患者被确诊缺乏钴胺素。即便如此，许多患者报告了通常但并非特异性与钴胺素缺乏相关的症状，即便其水平处于略低于正常范围。胃肠道病变与这些略低于正常的值显著相关（p = 0.027）。此外，59%的患者缺铁，67%的患者在就诊时未接受铁治疗。本研究首次表明，真正的钴胺素缺乏在HHT中并不比普通人群更常见，尽管略低于正常水平的情况很常见。对于不明原因的症状，应考虑评估钴胺素水平。
