Headache and Facial Pain Group, University College London (UCL), Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.
Cephalalgia. 2022 Jul;42(8):715-721. doi: 10.1177/03331024221076478. Epub 2022 Feb 15.
A positive family history predisposes to the development of cluster headache. The distinct characteristics of familial cluster headache have yet to be confirmed, however, evidence suggests a younger age of onset and higher proportion of females in this subgroup.
To assess the rate and mode of inheritance of familial cluster headache in a tertiary referral centre for headache. To describe the clinical features of familial cluster headache.
A retrospective study conducted between 2007 and 2017. Cluster headache was confirmed in probands and affected relatives. Differences in demographics, clinical characteristics, and response-to-treatment in familial cluster headache were delineated through multivariate analysis using a control cohort of 597 patients with sporadic cluster headache.
Familial cluster headache was confirmed in 48 (7.44%) patients and predominantly reflected an autosomal dominant mode of inheritance with reduced penetrance. Familial cases were more likely to report nasal blockage (OR 4.06, 95% CI; 2.600-6.494, p < 0.001) during an attack and a higher rate of concurrent short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (OR 3.76, 95% CI; 1.572-9.953, p = 0.004).
These findings add to evidence suggesting a genetic component to cluster headache. Here, we demonstrated prominent nasal blockage, and a higher occurrence of concomitant short-lasting unilateral neuralgiform headache with conjunctival injection and tearing in this subgroup, further delineating the phenotype.
阳性家族史易导致丛集性头痛的发生。然而，家族性丛集性头痛的独特特征尚未得到证实，有证据表明该亚组的发病年龄更早，女性比例更高。
在头痛的三级转诊中心评估家族性丛集性头痛的发生率和遗传模式。描述家族性丛集性头痛的临床特征。
本研究为 2007 年至 2017 年的回顾性研究。在先证者和受影响的亲属中确认丛集性头痛。通过对 597 例散发性丛集性头痛患者的对照队列进行多元分析，确定家族性丛集性头痛在人口统计学、临床特征和治疗反应方面的差异。
家族性丛集性头痛在 48 例（7.44%）患者中得到确认，主要表现为常染色体显性遗传模式，外显率降低。家族性病例更有可能报告在发作期间出现鼻塞（OR 4.06，95% CI：2.600-6.494，p<0.001），并且同侧短暂单侧神经痛伴结膜充血和流泪的发生率更高（OR 3.76，95% CI：1.572-9.953，p=0.004）。
这些发现增加了丛集性头痛具有遗传成分的证据。在这里，我们证明了该亚组中突出的鼻塞，以及同侧短暂单侧神经痛伴结膜充血和流泪的更高发生率，进一步描述了该亚组的表型。
