The Experts below are selected from a list of 264 Experts worldwide ranked by ideXlab platform
Henriette Farkas - One of the best experts on this subject based on the ideXlab platform.
-
changes of coagulation parameters during Erythema Marginatum in patients with hereditary angioedema
International Immunopharmacology, 2020Co-Authors: Kinga Viktoria Kőhalmi, Blanka Mező, Nora Veszeli, Szabolcs Benedek, Adrienne Feher, Agnes Holdonner, Milos Jesenak, Lilian Varga, Henriette FarkasAbstract:Abstract Background Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent episodes of subcutaneous/submucosal edema, which may be preceded by Erythema Marginatum (EM) as a prodromal symptom. Our aim was to analyze the changes occurring in the parameters of the coagulation system during the development of EM and HAE attacks. Materials and methods Eight C1-INH-HAE patients (1 male, 7 females, median age: 41.7 years) were studied. Blood samples were obtained from all patients (during symptom-free periods, EM, and HAE attacks), as well as from 20 sex- and age-matched healthy controls. Prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen, D-dimer, Factor V, Factor VII, Factor X, Factor XI, and Factor XII levels were measured. Results D-dimer levels were significantly lower, whereas aPTT was significantly prolonged in healthy controls vs. the values measured during the symptom-free period (p = 0.0497; p = 0.0043), in the presence of EM (p = 0.002; p = 0.0002), or during HAE attacks (p Conclusions D-dimer levels were elevated during EM and this suggests that EM may be part of the HAE attack. Nevertheless, further research into the complement and kinin-kallikrein systems is needed in more patients for a better understanding of the pathomechanism of EM.
-
a novel prophylaxis with c1 inhibitor concentrate in hereditary angioedema during Erythema Marginatum
Immunology Letters, 2017Co-Authors: Kinga Viktoria Kőhalmi, Nora Veszeli, Lilian Varga, Laszlo Cervenak, Henriette FarkasAbstract:Abstract Background Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The characteristic episodes of subcutaneous/submucosal edema formation may be preceded by Erythema Marginatum (EM) – the occurrence of a ‘map-like’ pattern on the skin. EM can occur as an isolated finding or accompanying a hereditary angiooedema (HAE) attack as well. Nevertheless, it is unknown whether a HAE attack can be prevented by the proper prophylactic treatment during EM. Objectives Our aim was to assess the prevalence of EM in the Hungarian C1-INH-HAE population and to introduce a safe and effective novel prophylactic treatment during EM in patients who’s HAE attacks are preceded by EM in a considerable proportion of the cases. Results Based on the data of the Hungarian HAE Registry, 49 among 173 C1-INH-HAE patients (28.3%) from 32 families had EM in their life. According to the clinical data and the patient’s HAE diaries, two patients (Patient #1, Patient #2) were selected who frequently had EM as a prodromal symptom. Both patients were instructed to administer plasma-derived C1-inhibitor concentrate (pdC1-INH) as soon as possible after the onset of EM, in order to prevent the development of HAE attack. Interestingly, HAE attacks never developed if pdC1-INH was administered within 6 h from the occurrence of EM in both patients. In contrast, without pdC1-INH treatment, in Patient 1 and Patient 2, 97.0% and 44.3% of the EM were followed by a HAE attack, respectively (p Conclusions As a novel prophylaxis in C1-INH-HAE, intravenous administration of pdC1-INH concentrate during EM might be an effective, individual therapeutic strategy in those patients who’s HAE attacks are often preceded by EM. Besides it can improve the quality of life of these selected patients, pdC1-INH administration during EM provides the lowest effective dose for the prophylaxis of their HAE attacks.
-
Erythema Marginatum as an early symptom of hereditary angioedema case report of 2 newborns
Pediatrics, 2016Co-Authors: Inmaculada Martinezsaguer, Henriette FarkasAbstract:Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare genetic disease that causes recurrent swelling attacks that may affect various body tissues. Angioedematous attacks can be fatal in the case of upper airway edema and are often preceded by prodromal symptoms like Erythema Marginatum. Initial symptoms usually occur in the first decade of life. We report on manifestation of profound and recurrent Erythema Marginatum in 2 newborns. In both cases, prodromal symptoms could help determine the diagnosis of C1-INH-HAE such that, at a later time, angioedematous attacks could be treated promptly and effectively. Awareness of C1-INH-HAE is low among physicians and even lower among the general public. This report aims at raising the level of awareness and shows that initial symptoms of the potentially life-threatening condition can manifest in newborns and that Erythema Marginatum can even be present at birth. Recognition of early symptoms and timely diagnosis of the disease along with adequate education of the pediatrician and parents are a prerequisite for prompt and effective treatment of attacks and the successful management of the disease.
-
Erythema Marginatum preceding an acute oedematous attack of hereditary angioneurotic oedema
Acta Dermato-venereologica, 2001Co-Authors: Henriette Farkas, George Harmat, Bela Fekete, Istvan Karadi, Beata Visy, Lilian VargaAbstract:Henriette Farkas1, George Harmat2, Andrea Fay3, Bela Fekete4, Istvan Karadi4, Beata Visy1 and Lilian Varga5 1Allergology & Angioedema Outpatient Clinic and 3Dermatology Outpatient Clinic, Semmelweis University, Kutvolgyi Clinical Centre, Kutvolgyi ut 4., H-1125 Budapest, Hungary. 2First Department of Paediatrics, Madarasz Children’s Hospital, Budapest, Hungary. 4Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary. 5Complement Laboratory, National Institute of Haematology and Immunology, Budapest, Hungary. E-mail: farkash@kut.sote.hu
Lilian Varga - One of the best experts on this subject based on the ideXlab platform.
-
changes of coagulation parameters during Erythema Marginatum in patients with hereditary angioedema
International Immunopharmacology, 2020Co-Authors: Kinga Viktoria Kőhalmi, Blanka Mező, Nora Veszeli, Szabolcs Benedek, Adrienne Feher, Agnes Holdonner, Milos Jesenak, Lilian Varga, Henriette FarkasAbstract:Abstract Background Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent episodes of subcutaneous/submucosal edema, which may be preceded by Erythema Marginatum (EM) as a prodromal symptom. Our aim was to analyze the changes occurring in the parameters of the coagulation system during the development of EM and HAE attacks. Materials and methods Eight C1-INH-HAE patients (1 male, 7 females, median age: 41.7 years) were studied. Blood samples were obtained from all patients (during symptom-free periods, EM, and HAE attacks), as well as from 20 sex- and age-matched healthy controls. Prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen, D-dimer, Factor V, Factor VII, Factor X, Factor XI, and Factor XII levels were measured. Results D-dimer levels were significantly lower, whereas aPTT was significantly prolonged in healthy controls vs. the values measured during the symptom-free period (p = 0.0497; p = 0.0043), in the presence of EM (p = 0.002; p = 0.0002), or during HAE attacks (p Conclusions D-dimer levels were elevated during EM and this suggests that EM may be part of the HAE attack. Nevertheless, further research into the complement and kinin-kallikrein systems is needed in more patients for a better understanding of the pathomechanism of EM.
-
a novel prophylaxis with c1 inhibitor concentrate in hereditary angioedema during Erythema Marginatum
Immunology Letters, 2017Co-Authors: Kinga Viktoria Kőhalmi, Nora Veszeli, Lilian Varga, Laszlo Cervenak, Henriette FarkasAbstract:Abstract Background Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The characteristic episodes of subcutaneous/submucosal edema formation may be preceded by Erythema Marginatum (EM) – the occurrence of a ‘map-like’ pattern on the skin. EM can occur as an isolated finding or accompanying a hereditary angiooedema (HAE) attack as well. Nevertheless, it is unknown whether a HAE attack can be prevented by the proper prophylactic treatment during EM. Objectives Our aim was to assess the prevalence of EM in the Hungarian C1-INH-HAE population and to introduce a safe and effective novel prophylactic treatment during EM in patients who’s HAE attacks are preceded by EM in a considerable proportion of the cases. Results Based on the data of the Hungarian HAE Registry, 49 among 173 C1-INH-HAE patients (28.3%) from 32 families had EM in their life. According to the clinical data and the patient’s HAE diaries, two patients (Patient #1, Patient #2) were selected who frequently had EM as a prodromal symptom. Both patients were instructed to administer plasma-derived C1-inhibitor concentrate (pdC1-INH) as soon as possible after the onset of EM, in order to prevent the development of HAE attack. Interestingly, HAE attacks never developed if pdC1-INH was administered within 6 h from the occurrence of EM in both patients. In contrast, without pdC1-INH treatment, in Patient 1 and Patient 2, 97.0% and 44.3% of the EM were followed by a HAE attack, respectively (p Conclusions As a novel prophylaxis in C1-INH-HAE, intravenous administration of pdC1-INH concentrate during EM might be an effective, individual therapeutic strategy in those patients who’s HAE attacks are often preceded by EM. Besides it can improve the quality of life of these selected patients, pdC1-INH administration during EM provides the lowest effective dose for the prophylaxis of their HAE attacks.
-
Erythema Marginatum preceding an acute oedematous attack of hereditary angioneurotic oedema
Acta Dermato-venereologica, 2001Co-Authors: Henriette Farkas, George Harmat, Bela Fekete, Istvan Karadi, Beata Visy, Lilian VargaAbstract:Henriette Farkas1, George Harmat2, Andrea Fay3, Bela Fekete4, Istvan Karadi4, Beata Visy1 and Lilian Varga5 1Allergology & Angioedema Outpatient Clinic and 3Dermatology Outpatient Clinic, Semmelweis University, Kutvolgyi Clinical Centre, Kutvolgyi ut 4., H-1125 Budapest, Hungary. 2First Department of Paediatrics, Madarasz Children’s Hospital, Budapest, Hungary. 4Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary. 5Complement Laboratory, National Institute of Haematology and Immunology, Budapest, Hungary. E-mail: farkash@kut.sote.hu
Jorge Kalil - One of the best experts on this subject based on the ideXlab platform.
-
Chapter 22 – Rheumatic Fever and Rheumatic Heart Disease
The Heart in Rheumatic Autoimmune and Inflammatory Diseases, 2020Co-Authors: Luiza Guilherme, Roney Orismar Sampaio, S. Freschi De Barros, Karen Francine Köhler, Guilherme Sobreira Spina, Flávio Tarasoutchi, Jorge KalilAbstract:Rheumatic fever (RF) is the prototype of postinfectious autoimmune diseases. Similarities of structure and/or spatial conformation between Streptococcus pyogenes and human tissue proteins lead to autoimmune reactions due to molecular mimicry. The activation of T and B lymphocytes involves several genetically controlled molecules that act in both the innate and adaptive immune response. In this chapter, we describe the strains of bacteria that are more commonly involved in the development of RF worldwide as well as the genetic predisposition of diverse ethnic groups. The disease manifests in susceptible children and teenagers, usually starting as polyarthritis or Sydenham's chorea. This condition generally occurs several months after streptococcal infection. Erythema Marginatum and subcutaneous nodules are rare cutaneous manifestation, and carditis is the most serious sequelae and can lead to severe valve damage and rheumatic heart disease (RHD). The immune mechanisms that lead to the diverse manifestations mentioned above are discussed. The diagnosis and treatment, particularly the revision of Jones Criteria in the era of Doppler echocardiography, as well as the perspective of vaccine development, are also presented.
-
Rheumatic Fever and Rheumatic Heart Disease: Cellular Mechanisms Leading Autoimmune Reactivity and Disease
Journal of Clinical Immunology, 2010Co-Authors: Luiza Guilherme, Jorge KalilAbstract:Introduction Rheumatic fever (RF) is an autoimmune disease caused by the gram-positive bacteria Streptococcus pyogenes that follows a nontreated throat infection in susceptible children. The disease manifests as polyarthritis, carditis, chorea, Erythema Marginatum, and/or subcutaneous nodules. Carditis, the most serious complication, occurs in 30% to 45% of RF patients and leads to chronic rheumatic heart disease (RHD), which is characterized by progressive and permanent valvular lesions. In this review, we will focus on the genes that confer susceptibility for developing the disease, as well as the innate and adaptive immune responses against S. pyogenes during the acute rheumatic fever episode that leads to RHD autoimmune reactions. Discussion The disease is genetically determined, and some human leukocyte antigen class II alleles are involved with susceptibility. Other single nucleotide polymorphisms for TNF-alpha and mannan-binding lectin genes were reported as associated with RF/RHD. T cells play an important role in RHD heart lesions. Several autoantigens were already identified, including cardiac myosin epitopes, vimentin, and other intracellular proteins. In the heart tissue, antigen-driven oligoclonal T cell expansions were probably the effectors of the rheumatic heart lesions. These cells are CD4^+ and produced inflammatory cytokines (TNFα and IFNγ). Conclusion Molecular mimicry is the mechanism that mediated the cross-reactions between streptococcal antigens and human proteins. The elucidation of chemokines and their receptors involved with the recruitment of Th1, Th2, and Th17 cells, as well as the function of T regulatory cells in situ will certainly contribute to the delineation of the real picture of the heart lesion process that leads to RHD.
-
Rheumatic Fever and Rheumatic Heart Disease: Cellular Mechanisms Leading Autoimmune Reactivity and Disease
Journal of Clinical Immunology, 2009Co-Authors: Luiza Guilherme, Jorge KalilAbstract:Introduction Rheumatic fever (RF) is an autoimmune disease caused by the gram-positive bacteria Streptococcus pyogenes that follows a nontreated throat infection in susceptible children. The disease manifests as polyarthritis, carditis, chorea, Erythema Marginatum, and/or subcutaneous nodules. Carditis, the most serious complication, occurs in 30% to 45% of RF patients and leads to chronic rheumatic heart disease (RHD), which is characterized by progressive and permanent valvular lesions. In this review, we will focus on the genes that confer susceptibility for developing the disease, as well as the innate and adaptive immune responses against S. pyogenes during the acute rheumatic fever episode that leads to RHD autoimmune reactions.
Luiza Guilherme - One of the best experts on this subject based on the ideXlab platform.
-
Chapter 22 – Rheumatic Fever and Rheumatic Heart Disease
The Heart in Rheumatic Autoimmune and Inflammatory Diseases, 2020Co-Authors: Luiza Guilherme, Roney Orismar Sampaio, S. Freschi De Barros, Karen Francine Köhler, Guilherme Sobreira Spina, Flávio Tarasoutchi, Jorge KalilAbstract:Rheumatic fever (RF) is the prototype of postinfectious autoimmune diseases. Similarities of structure and/or spatial conformation between Streptococcus pyogenes and human tissue proteins lead to autoimmune reactions due to molecular mimicry. The activation of T and B lymphocytes involves several genetically controlled molecules that act in both the innate and adaptive immune response. In this chapter, we describe the strains of bacteria that are more commonly involved in the development of RF worldwide as well as the genetic predisposition of diverse ethnic groups. The disease manifests in susceptible children and teenagers, usually starting as polyarthritis or Sydenham's chorea. This condition generally occurs several months after streptococcal infection. Erythema Marginatum and subcutaneous nodules are rare cutaneous manifestation, and carditis is the most serious sequelae and can lead to severe valve damage and rheumatic heart disease (RHD). The immune mechanisms that lead to the diverse manifestations mentioned above are discussed. The diagnosis and treatment, particularly the revision of Jones Criteria in the era of Doppler echocardiography, as well as the perspective of vaccine development, are also presented.
-
Rheumatic Fever and Rheumatic Heart Disease: Cellular Mechanisms Leading Autoimmune Reactivity and Disease
Journal of Clinical Immunology, 2010Co-Authors: Luiza Guilherme, Jorge KalilAbstract:Introduction Rheumatic fever (RF) is an autoimmune disease caused by the gram-positive bacteria Streptococcus pyogenes that follows a nontreated throat infection in susceptible children. The disease manifests as polyarthritis, carditis, chorea, Erythema Marginatum, and/or subcutaneous nodules. Carditis, the most serious complication, occurs in 30% to 45% of RF patients and leads to chronic rheumatic heart disease (RHD), which is characterized by progressive and permanent valvular lesions. In this review, we will focus on the genes that confer susceptibility for developing the disease, as well as the innate and adaptive immune responses against S. pyogenes during the acute rheumatic fever episode that leads to RHD autoimmune reactions. Discussion The disease is genetically determined, and some human leukocyte antigen class II alleles are involved with susceptibility. Other single nucleotide polymorphisms for TNF-alpha and mannan-binding lectin genes were reported as associated with RF/RHD. T cells play an important role in RHD heart lesions. Several autoantigens were already identified, including cardiac myosin epitopes, vimentin, and other intracellular proteins. In the heart tissue, antigen-driven oligoclonal T cell expansions were probably the effectors of the rheumatic heart lesions. These cells are CD4^+ and produced inflammatory cytokines (TNFα and IFNγ). Conclusion Molecular mimicry is the mechanism that mediated the cross-reactions between streptococcal antigens and human proteins. The elucidation of chemokines and their receptors involved with the recruitment of Th1, Th2, and Th17 cells, as well as the function of T regulatory cells in situ will certainly contribute to the delineation of the real picture of the heart lesion process that leads to RHD.
-
Rheumatic Fever and Rheumatic Heart Disease: Cellular Mechanisms Leading Autoimmune Reactivity and Disease
Journal of Clinical Immunology, 2009Co-Authors: Luiza Guilherme, Jorge KalilAbstract:Introduction Rheumatic fever (RF) is an autoimmune disease caused by the gram-positive bacteria Streptococcus pyogenes that follows a nontreated throat infection in susceptible children. The disease manifests as polyarthritis, carditis, chorea, Erythema Marginatum, and/or subcutaneous nodules. Carditis, the most serious complication, occurs in 30% to 45% of RF patients and leads to chronic rheumatic heart disease (RHD), which is characterized by progressive and permanent valvular lesions. In this review, we will focus on the genes that confer susceptibility for developing the disease, as well as the innate and adaptive immune responses against S. pyogenes during the acute rheumatic fever episode that leads to RHD autoimmune reactions.
Anette Bygum - One of the best experts on this subject based on the ideXlab platform.
-
urticaria and prodromal symptoms including Erythema Marginatum in danish patients with hereditary angioedema
Acta Dermato-venereologica, 2016Co-Authors: Eva Rye Rasmussen, Priscila Valente De Freitas, Anette BygumAbstract:: Erythema Marginatum is a characteristic skin rash seen in patients with hereditary angioedema (HAE); however, it can be confused with urticaria, leading to delay in correct diagnosis. The aim of this study was to clarify how often Erythema Marginatum is misinterpreted as urticaria, potentially leading physicians to refrain from testing for HAE. Few studies have been published on urticaria and prodromal symptoms in HAE, thus the incidence of these parameters were also investigated. A total of 87 patients affiliated to the national HAE Centre were included. Retrospective and prospective data on skin eruptions and prodromal symptoms were collected. Fifty-six percent of 87 patients had a positive history of Erythema Marginatum. Half of the patients had experienced Erythema Marginatum being misinterpreted as urticaria. The most prevalent other prodromal symptoms were other skin symptoms, malaise, psychological changes, fatigue and gastrointestinal symptoms. HAE patients with Erythema Marginatum have a longer diagnostic delay, presumably caused by misinterpretation of the rash as urticaria.
-
Hereditary angio-oedema in Denmark: a nationwide survey.
British Journal of Dermatology, 2009Co-Authors: Anette BygumAbstract:Background: Hereditary angio-oedema (HAE) is a rare disease caused by deficiency of complement C1 inhibitor (C1 inhibitor). The diagnosis is challenging as the disease can have a variety of clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated. Objectives: To identify and characterize all patients with HAE in Denmark and increase awareness of the disease. Methods: Patients were recruited from hospital departments, dermatologists in private practice, Centres for Rare Diseases, the Danish patient organization and the national reference laboratory. Family interviews were conducted and medical records were evaluated. Information was spread through lectures, articles in popular magazines and via television. National guidelines for diagnosis and treatment were published. Results: Eighty-two patients were identified. The mean diagnostic delay was 16.3 years. Five patients had HAE type II. Forty-five patients reported a characteristic serpiginous rash (Erythema Marginatum). More than 90% of patients had noticed precipitating factors before skin and mucosal swellings. Four patients underwent a total of eight tracheotomies and five families recalled 11 relatives who died of HAE. Conclusions: The minimal prevalence of HAE in Denmark is approximately 1.41 per 100 000 inhabitants. The risk of upper airway obstruction underlines the importance of diagnosing these patients. Precipitating factors, a preceding or concomitant serpiginous Erythema and cutaneous swelling and/or abdominal pain attack and/or laryngeal oedema are clues to the diagnosis. As a consequence of this survey, information has been spread to patients, families and physicians.