Co-occurrence between hereditary angioedema and multiple sclerosis: Therapeutic management of both diseases with fingolimod

Aigli G Vakrakou; Dimitrios Tzanetakos; Eirini Giagkou; Maria-Eleptheria Evangelopoulos; Maria Anagnostouli; Elissavet Andreadou; Georgios Koutsis; Antonios Dimitrakopoulos; Elias Gialafos; John S Tzartos; Evangelia Kompoti; George E Fragoulis; Leonidas Stefanis; Constantinos Kilidireas

doi:10.1016/j.clineuro.2022.107222

Co-occurrence between hereditary angioedema and multiple sclerosis: Therapeutic management of both diseases with fingolimod

Clin Neurol Neurosurg. 2022 May:216:107222. doi: 10.1016/j.clineuro.2022.107222. Epub 2022 Mar 28.

Authors

Affiliations

¹ Demyelinating Diseases Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece. Electronic address: avakrakou@med.uoa.gr.
² Demyelinating Diseases Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
³ 2nd Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
⁴ Department of Allergology-Clinical Immunology, Division of Internal Medicine, Laikon General Hospital of Athens, Agiou Thoma 17, Athens 11527, Greece.
⁵ Department of Propaedeutic Internal Medicine, Medical School, Rheumatology Unit, "Laiko" General Hospital, National and Kapodistrian University of Athens, Greece.

PMID: 35378480
DOI: 10.1016/j.clineuro.2022.107222

Abstract

Background: 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.

Case report: 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.

Conclusions: 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.

Keywords: Fingolimod; Glatiramer acetate; Hereditary angioedema; Multiple sclerosis; Scrotal edemas.