Centro de Doenças Raras e da Imunidade, Hospital Nove de Julho, Rua Peixoto Gomide, 285, Cerqueira César, São Paulo, CEP 01409-001, SP, Brazil.
Universidade Santo Amaro, São Paulo, Brazil.
Adv Rheumatol. 2024 Apr 25;64(1):32. doi: 10.1186/s42358-024-00373-z.
Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of musculoskeletal involvement. The patient´s journey to diagnosis is long, and physicians should include these disorders in their differential diagnoses of diseases with systemic involvement. In this review, insights for the diagnosis and treatment of osteogenesis imperfecta, hypermobility spectrum disorder/Ehlers-Danlos syndrome, Marfan, Loeys-Dietz, and Stickler syndromes are presented.
遗传性结缔组织疾病包括 200 多种影响不同器官和组织的疾病，通过干扰胶原和/或其相关蛋白的合成、发育或分泌，破坏细胞外基质的生物学功能。临床表现包括多种体征和症状，通常是非特异性的，但由于涉及肌肉骨骼，故受到风湿病学家的关注。患者的诊断过程漫长，医生应将这些疾病纳入全身性疾病的鉴别诊断中。在这篇综述中，介绍了成骨不全症、高迁移率谱障碍/埃勒斯-当洛斯综合征、马凡综合征、Loeys-Dietz 综合征和 Stickler 综合征的诊断和治疗要点。
