Vakrakou Aigli G, Tzanetakos Dimitrios, Giagkou Eirini, Evangelopoulos Maria-Eleptheria, Anagnostouli Maria, Andreadou Elissavet, Koutsis Georgios, Dimitrakopoulos Antonios, Gialafos Elias, Tzartos John S, Kompoti Evangelia, Fragoulis George E, Stefanis Leonidas, Kilidireas Constantinos
Demyelinating Diseases Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Demyelinating Diseases Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Clin Neurol Neurosurg. 2022 May;216:107222. doi: 10.1016/j.clineuro.2022.107222. Epub 2022 Mar 28.
Hereditary angioedema (HAE) related to C1 esterase-inhibitor deficiency activates the classic complement pathway and results to edematous crises. Although HAE is usually associated with multiple immunoregulatory disorders, neurologic manifestations are rare.
We report on the case study of a 33-year-old man diagnosed with HAE (SERPIN1G gene mutation) and multiple sclerosis (MS), followed up for at least 6 years. After a first clinical attack of HEA with scrotal edema, MS disease exacerbation was observed. Treatment with glatiramer acetate could not prevent either MS or HAE clinical attacks with recurrent exacerbations been observed. Remission of MS and significant amelioration of HAE attacks were achieved under fingolimod treatment.
Herein we provide long term evaluation of an extremely rare case of concomitant existence of HAE and MS and present the effects of MS current disease-modifying therapies in HAE attacks. Our case highlights the possible effect of fingolimod in immunoregulatory-mechanisms implicated in both diseases.
与C1酯酶抑制剂缺乏相关的遗传性血管性水肿（HAE）激活经典补体途径并导致水肿危象。虽然HAE通常与多种免疫调节紊乱相关，但神经系统表现罕见。
我们报告了一例33岁男性的病例研究，该患者被诊断为HAE（SERPIN1G基因突变）和多发性硬化症（MS），随访至少6年。在首次发生伴有阴囊水肿的HAE临床发作后，观察到MS病情加重。醋酸格拉替雷治疗无法预防MS或HAE的临床发作，仍观察到复发加重。在芬戈莫德治疗下，MS得到缓解，HAE发作明显改善。
在此，我们对HAE和MS同时存在的极其罕见病例进行了长期评估，并展示了MS当前疾病修饰疗法对HAE发作的影响。我们的病例突出了芬戈莫德对涉及这两种疾病的免疫调节机制的可能作用。
