De Miguel-Escribano Manuel, Garrido-Montes Manuel, Astudillo-Ortega Pablo, Pertusa-Mataix Roberto, Rodríguez-Trigueros Andrea, Corchero-Gijón Jorge, Garcia-Morillo Jose-Salvador
Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Seville, Spain.
Eur J Case Rep Intern Med. 2024 Nov 28;11(12):005018. doi: 10.12890/2024_005018. eCollection 2024.
The coexistence of hypercoagulability and bleeding diathesis in the same patient represents a potentially lethal combination due to its complex management. Vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) are classified as rare diseases due to their low prevalence. vEDS is associated with bleeding tendencies caused by vascular wall fragility, while SPS is characterized by atypical arterial and venous thrombosis.
We report a 27-year-old woman, smoker and regular consumer of energy drinks, with a medical history of subclinical hypothyroidism, minor thalassemia, recurrent joint sprains, high myopia, and anterior mitral valve prolapse, who was diagnosed with both vEDS and SPS type I. The patient experienced a catastrophic progression over a short time period, marked by numerous thrombotic and bleeding episodes, ultimately leading to a fatal outcome.
This report documents the first known case of concurrent vEDS and SPS, highlighting the complexity and challenges in the management of these two rare conditions together. The interplay between these syndromes necessitates careful clinical consideration and the development of tailored management strategies to mitigate associated risks. This underscores the crucial role of the internist in overseeing such cases. Further studies are needed to explore new therapeutic strategies aimed at improving survival rates and outcomes for patients with this unique combination of disorders.
The coexistence of vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) creates a unique clinical scenario where the underlying connective tissue weakness and platelet hyperaggregability synergistically increase the risk of both thrombotic and haemorrhagic events, complicating management strategies.Internists must assume a pivotal role in the integrated management of patients with vEDS and SPS, facilitating a multidisciplinary strategy that not only addresses the dual risk of thromboembolic and haemorrhagic complications but also emphasizes the importance of personalized treatment algorithms and ongoing surveillance to optimize long-term outcomes.
同一患者同时存在高凝状态和出血倾向是一种潜在的致命组合，因其管理复杂。血管型埃勒斯-当洛综合征（vEDS）和血小板黏附综合征（SPS）由于发病率低被归类为罕见病。vEDS与血管壁脆弱导致的出血倾向相关，而SPS的特征是非典型动静脉血栓形成。
我们报告一名27岁女性，吸烟者且经常饮用能量饮料，有亚临床甲状腺功能减退、轻度地中海贫血、复发性关节扭伤、高度近视和二尖瓣前叶脱垂病史，被诊断为I型vEDS和SPS。患者在短时间内经历了灾难性进展，其特征是大量血栓形成和出血事件，最终导致致命结局。
本报告记录了首例已知的vEDS和SPS并发病例，突出了同时管理这两种罕见疾病的复杂性和挑战。这些综合征之间的相互作用需要仔细的临床考虑并制定量身定制的管理策略以降低相关风险。这强调了内科医生在监督此类病例中的关键作用。需要进一步研究以探索旨在提高患有这种独特疾病组合患者生存率和结局的新治疗策略。
血管型埃勒斯-当洛综合征（vEDS）和血小板黏附综合征（SPS）并存创造了一种独特的临床情况，即潜在的结缔组织薄弱和血小板过度聚集协同增加血栓形成和出血事件的风险，使管理策略复杂化。内科医生必须在vEDS和SPS患者的综合管理中发挥关键作用，促进多学科策略，该策略不仅要应对血栓栓塞和出血并发症的双重风险，还要强调个性化治疗方案和持续监测以优化长期结局的重要性。
