Mikołajczyk-Solińska Melania, Leończyk Karolina, Brzezina Aleksandra, Rossa Sylwia, Kasznicki Jacek
Department of Internal Medicine, Diabetology and Clinical Pharmacology, Medical University of Lodz, 251 Pomorska Street, 92-213 Lodz, Poland.
Central Teaching Hospital of the Medical University of Lodz, 251 Pomorska Street, 92-213 Lodz, Poland.
Open Med (Wars). 2020 Mar 6;15:134-138. doi: 10.1515/med-2020-0020. eCollection 2020.
Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations from epistaxis to clinically significant arteriovenous malformations (AVM) in the lungs, liver, brain and spine. The diagnosis of HHT is based on clinical criteria. There is a long diagnostic delay of nearly 3 decades since disease onset. The treatment is based on various types of haemostasis. There is ongoing research with potential therapies which may prevent and decrease the severity of epistaxis. Thalidomide may be an effective treatment to decrease the bleeding symptoms of patients with HHT.
遗传性出血性毛细血管扩张症（HHT），也称为伦杜-奥斯勒-韦伯综合征，是一种罕见的常染色体显性遗传性血管疾病。HHT患者可能出现从鼻出血到肺部、肝脏、大脑和脊柱中具有临床意义的动静脉畸形（AVM）等广泛的临床表现。HHT的诊断基于临床标准。自疾病发作以来，诊断延迟时间长达近30年。治疗基于各种止血方法。目前正在进行有关潜在疗法的研究，这些疗法可能预防和减轻鼻出血的严重程度。沙利度胺可能是减轻HHT患者出血症状的有效治疗方法。
