Majda Vrkić Kirhmajer, Department of Cardiovascular Diseases, University Hospital Centre Zagreb, Kišpatićeva 12, 10000 Zagreb, majda
Croat Med J. 2022 Aug 31;63(4):394-398. doi: 10.3325/cmj.2022.63.394.
Due to life-threatening complications, vascular Ehlers-Danlos syndrome (vEDS) is the most severe form of EDS. Because the syndrome is associated with a shortened life expectancy and variable clinical presentation, diagnosis confirmed by genetic testing is crucial to determining appropriate treatment. Despite some distinguishing features, this rare disease often goes unrecognized. Apart from surgical or endovascular treatment of serious vascular complications, medical treatment based on celiprolol helps reduce arterial complications. We report on a case of vEDS in a young man who suffered several episodes of severe vascular complications. The diagnosis of vEDS was established based on clinical manifestations and confirmed by genetic testing. A novel heterozygous pathogenic variant in the COL3A1 gene was found. To our knowledge, this is the first case of vEDS caused by this variant.
由于危及生命的并发症，血管型埃勒斯-当洛斯综合征（vEDS）是埃勒斯-当洛斯综合征中最严重的形式。由于该综合征与预期寿命缩短和临床表现多变有关，因此通过基因检测确认诊断对于确定适当的治疗至关重要。尽管存在一些明显的特征，但这种罕见疾病常常未被识别。除了严重血管并发症的手术或血管内治疗外，基于塞利洛尔的药物治疗有助于减少动脉并发症。我们报告了一名年轻男子的 vEDS 病例，他患有多次严重的血管并发症。vEDS 的诊断基于临床表现，并通过基因检测确认。发现 COL3A1 基因中的一种新的杂合致病性变异。据我们所知，这是由该变异引起的首例 vEDS 病例。
