Pezzoto Catalina, Braslavsky Ana, Vázquez Carolina, Serrano Candelaria, Serra Marcelo
Universidad Hospital Italiano, Buenos Aires, Argentina.
Internal Medicine Research Unit, Argentine Rendu Study Group (ARG), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Angiogenesis. 2025 May 2;28(3):27. doi: 10.1007/s10456-025-09981-9.
We present a novel case of concurrent Hereditary Hemorrhagic Telangiectasia-Juvenile Polyposis Syndrome (HHT-JP), resulting in a fatal aortic dissection. Given rarity of the case, we aimed to perform a comprehensive review of the existing literature to better characterize this clinical complication in this population.
We conducted a literature review on HHT-JP syndrome using PubMed, focusing on English-language articles published between 2010 and 2024, specifically case reports and small series. Search terms "Hereditary Hemorrhagic Telangiectasia", "Osler-Weber-Rendu syndrome" and "Juvenile Polyposis" were used. Exclusion criteria included population studies lacking detailed individual characteristics related to Hereditary Hemorrhagic Telangiectasia (HHT) or Juvenile Polyposis (JP). Duplicate articles were removed, and data were extracted on patient demographics, clinical presentations, diagnostic criteria (Curaçao criteria for HHT, Jass criteria for JP), treatments, and outcomes.
Fifty-six individuals with the MADH4 mutation met the inclusion criteria and were compared to our patient. The age range of the total cohort of fifty-six participants spanned from 6 to 66 years, with a distribution between men and women. The typical clinical presentation of HHT-JP was observed in most cases. Notably, only one patient from previous literature exhibited aortic dissection, aligning with our patient's presentation. Additionally, three other patients had aortic aneurysms. Musculoskeletal and other cardiovascular anomalies were also identified and described.
While aortic aneurysms prevail in HHT-JP syndrome, aortic dissection cases are extremely rare. This case highlights the need for vigilant screening to identify aortic anomalies in this specific patient subset, emphasizing the severe complications associated with this syndrome combination.
我们报告一例并发遗传性出血性毛细血管扩张症-幼年性息肉病综合征（HHT-JP）导致致命性主动脉夹层的罕见病例。鉴于该病例的罕见性，我们旨在对现有文献进行全面综述，以更好地描述该人群中的这一临床并发症。
我们使用PubMed对HHT-JP综合征进行了文献综述，重点关注2010年至2024年间发表的英文文章，特别是病例报告和小样本系列研究。使用了搜索词“遗传性出血性毛细血管扩张症”、“奥斯勒-韦伯-伦杜综合征”和“幼年性息肉病”。排除标准包括缺乏与遗传性出血性毛细血管扩张症（HHT）或幼年性息肉病（JP）相关详细个体特征的人群研究。去除重复文章，并提取了患者人口统计学、临床表现、诊断标准（HHT的库拉索标准、JP的贾斯标准）、治疗方法和结局的数据。
56名携带MADH4突变的个体符合纳入标准，并与我们的患者进行了比较。56名参与者的总队列年龄范围为6至66岁，男女均有分布。大多数病例观察到了HHT-JP的典型临床表现。值得注意的是，既往文献中只有一名患者出现主动脉夹层，与我们患者的表现一致。此外，其他三名患者有主动脉瘤。还识别并描述了肌肉骨骼和其他心血管异常。
虽然主动脉瘤在HHT-JP综合征中较为常见，但主动脉夹层病例极为罕见。该病例强调了对这一特定患者亚组进行警惕性筛查以识别主动脉异常的必要性，凸显了与这种综合征组合相关的严重并发症。
