Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Headache. 2014 Sep;54(8):1393-402. doi: 10.1111/head.12418. Epub 2014 Jul 16.
Heritable connective tissue disorders (HCTD) present with a wide array of findings, including headache. Because of their unusual substrate, headaches in HCTD can derive from both common and uncommon circumstances.
Literature review.
Ehlers-Danlos hypermobile type can be recognized by multiple joint findings and its tendency to progress to a multisystem chronic pain syndrome. Ehlers-Danlos classic type also manifests joint laxity and similar pain complaints, but is differentiated by its skin laxity and fragility. Ehlers-Danlos vascular type presents the most severe risk due to blood vessel and hollow organ rupture. Marfan syndrome demonstrates skeletal abnormalities, lens dislocations, and aortic root dilation that can result in dissection.
In a headache patient, recognizing the presence of an HCTD improves the strategy for diagnosis and management. A brief review of findings related to joints, skin, and arteries may prompt further investigation into the HCTDs.
遗传性结缔组织疾病 (HCTD) 表现出广泛的表现，包括头痛。由于其不寻常的基质，HCTD 中的头痛可能源于常见和不常见的情况。
文献回顾。
可通过多种关节表现识别埃勒斯-当洛斯高活动型，并且其有进展为多系统慢性疼痛综合征的趋势。埃勒斯-当洛斯经典型也表现出关节松弛和类似的疼痛投诉，但通过其皮肤松弛和脆弱性来区分。埃勒斯-当洛斯血管型由于血管和中空器官破裂而呈现出最严重的风险。马凡综合征表现出骨骼异常、晶状体脱位和主动脉根部扩张，可能导致夹层。
在头痛患者中，认识到 HCTD 的存在可改善诊断和管理策略。简要回顾与关节、皮肤和动脉相关的发现可能会促使进一步调查 HCTD。
