Loeys-Dietz Syndrome (LDS): Types 1–5
摘要
The Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue syndrome (<1/100,000) with broad systemic involvements affecting craniofacial, vascular, and skeletal systems with different genetic subtypes, and in many cases, increases the risk of potentially life-threatening cardiovascular problems. The classical triad of LDS is described as arterial tortuosity and aneurysms, hypertelorism, and bifid uvula, or cleft palate (Loeys et al. 2006). Affected patients develop the syndrome in the first to fourth decades of life (Loeys et al. 2006; Boileau et al. 1993). The patients usually manifest with severe cardiovascular and cerebrovascular pathology such as aneurysms, dissection, arterial tortuosity, craniofacial involvement, including bifid uvula, hypertelorism, retrognathia, cleft palate, and connective tissue abnormalities, such as pectus deformity, scoliosis, inguinal hernia, joint laxity, arachnodactyly, camptodactyly, and pes planus. Rapidly progressive aortic aneurysmal disease is a distinct feature of LDS (MacCarrick et al. 2014). LDS patients have an increased prevalence of immunologic-related disorders, such as asthma, food allergy, eczema, and allergic rhinitis. Approximately 31% of affected patients manifest food allergies, in comparison with a prevalence rate of 6–8% in the general population (MacCarrick et al. 2014).