PhD Scientific Days 2018

Oral presentations: Pathology

Genetic biomarkers and clinical significance of erythema marginatum in Hungarian patients with hereditary angioedema due to C1-inhibitor deficiency

Előadó neve

Dr. Kőhalmi, Kinga Viktória

Előadó munkahelye

Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University

Előadó telefonszáma

+36-30 721-3355

Előadó e-mail címe

kinga.viktoria.kohalmi@gmail.com

Az előadás címe

Genetic biomarkers and clinical significance of erythema marginatum in Hungarian patients with hereditary angioedema due to C1-inhibitor deficiency

Szerző(k) neve és munkahelye

Kinga Viktória Kőhalmi1, Virág Menkő1, Nóra Veszeli1,2, Dorottya Csuka1, Lilian Varga1, Anastasios E. Germenis3 and Henriette Farkas1

1 Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
2 MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary
3 Department of Immunology and Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece

Bemutatás módja

Szóbeli

Szekció

Oral presentations: Pathology

Language of the presentation

Hungarian

Témacsoport

other

Összefoglaló szövege

Introduction: Hereditary angioedema (HAE) attacks in patients with HAE with C1-inhibitor deficiency (C1-INH-HAE) may be preceded by erythema marginatum (EM). EM can occur alone or accompany a HAE attack.

Aims and method: We assessed the prevalence of EM in C1-INH-HAE patients, using an Erythema Marginatum Questionnaire (EMQ). Furthermore, we explored possible associations among EM and different types of SERPING1 mutations, the carrier state of KLKB1-428G/A and F12-46C/T functional polymorphisms.

Results: According to the EMQ, 65/165 patients (39.4%; mean age: 38.4 years) from 43 families experienced EM during their lifetime; 39/65 (60%) were female. The distribution of EM by location was as follows: upper extremities 29.5%, chest 28%, back 18%, lower extremities 13%, abdomen 6.5%, and the face 5%. EM first appears at the age of 15.5 years on average. In 52% of patients, EM occurs as an isolated finding. On average, 7.5/10 EMs are followed by an HAE attack. Genetic analysis was done in 97 patients (mean age: 37.3 years) from 39 families. The different types of SERPING1 mutations were accompanied by EM in the following proportions: 73.3% of large defect, 67% of regulatory, 59% of frameshift, 56.3% of nonsense mutations; only 31.3% of patients with missense mutations had EM. With regard to the F12-46C/T polymorphism, 42.9% of heterozygous carriers, but 67.2% of ‘wild-type’ patients had EM. In case of the KLKB1-428G/A polymorphism, 73% of homozygous, 57.6% of heterozygous carriers had EM, while only 25% of ‘wild-type’ patients had EM.

Conclusion: EM manifests later than the onset of HAE attacks; it is characterized by female predominance. As 73% of EMs was followed by an HAE attack, early introduction of individualized therapy should be considered. Genetic predisposition is likely in EM and therefore, a predictive genetic pattern could be created by the analysis of further genes.

Data of the presenter

Doctoral School: Basic Medicine
Program: Vascular pathophisiology / atherosclerosis
Supervisor: Henriette Farkas
E-mail address: farkas.henriette@med.semmelweis-univ.hu

Disclosure of potential conflict of interest: This study was supported by ÚNKP-17-3-III-SE-13 New National Excellence Program of the Ministry of Human Capacities, National Scientific Research Fund (OTKA) 124557, and the Pharming Group NV.

Kind

Szabad

Status

elfogadva

Accepted presentation method

szóbeli

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

2811

Authors (legacy)

Kinga Viktória Kőhalmi1, Virág Menkő1, Nóra Veszeli1,2, Dorottya Csuka1, Lilian Varga1, Anastasios E. Germenis3 and Henriette Farkas1

1 Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
2 MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary
3 Department of Immunology and Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece