Background: No published data presently exist concerning hereditary angioedema (HAE) in Turkey. The aim of the study was to initiate a preliminary multicentric evaluation about HAE and to determine the genetic properties of Turkish patients. Methods: Based on records drawn from four medical centers we identified a total of 70 subjects, belonging to 60 unrelated families, fulfilling clinical and laboratory criteria for diagnosis of HAE with C1 inhibitor deficiency. Ten type I patients, and their first-degree relatives, underwent genetic analysis for HAE. Results: The majority of patients were female (60%), the mean age was 37.7 ± 14.1 years. The mean age at the time of first angioedema symptom was 12.5 ± 9.2 years. Mean time lag between first symptom and diagnosis was 26 ± 14.4 years. All but 3 subjects had HAE type I. Family history of angioedema was present in 75.7% of the cases. Cutaneous swelling was reported by 87.1% of the patients, facial edema by 65%, abdominal symptoms by 74.3% and approximately one half (55.7%) had experienced one or more laryngeal attack. Genetic analysis of 10 families demonstrated that 5 carried a mutation that had never been previously described. Conclusion: We found that the clinical features of Turkish HAE patients were consistent with previously described patterns of this rare disease. The most noteworthy feature identified in the study was a significantly long duration between the first symptom appearance and final diagnosis. Our detection of different mutations in 10 patients confirms the allelic heterogeneity of the disease.
BackgroundHereditary angioedema is a rare autosomal dominantly inherited
immunodeficiency disorder characterized by potentially life-threatening
angioedema attacks.ObjectiveWe aimed to investigate the clinical and genetic features of a family with
angioedema attacks.MethodsThe medical history, clinical features and C1-INH gene mutation of a Turkish
family were investigated and outcomes of long-term treatments were
described.ResultsFive members had experienced recurrent swellings on the face and extremities
triggered by trauma. They were all misdiagnosed as familial Mediterranean
fever (FMF) depending on frequent abdominal pain and were on colchicine
therapy for a long time. They had low C4 and C1-INH protein concentrations
and functions. A mutation (c.1247T>A) in C1-INH gene was detected. They
were diagnosed as having hereditary angioedema with C1-INH deficiency
(C1-INH hereditary angioedema) for the first time. Three of them benefited
from danazol treatment without any significant adverse events and one
received weekly C1 esterase replacement treatment instead of danazol since
she had a medical history of thromboembolic stroke.Study limitationsSmall sample size of participants.ConclusionPatients with C1-INH hereditary angioedema may be misdiagnosed as having
familial Mediterranean fever in regions where the disorder is endemic.
Medical history, suspicion of hereditary angioedema and laboratory
evaluations of patients and their family members lead the correct diagnoses
of hereditary angioedema. Danazol and C1 replacement treatments provide
significant reduction in hereditary angioedema attacks.
OMICS is an interdisciplinary peer-reviewed journal dedicated, for more than two decades, to integrative biology and systems thinking from ''cell to society.'' The journal informs a diverse and highly interdisciplinary systems and life sciences readership in 170 countries. OMICS is pleased to feature this month an exciting interview with Dr. Belgin Eroglu Kesim in _ Istanbul. Dr. Eroglu Kesim is an experienced physician and medical geneticist with expertise in laboratory medicine, COVID-19 diagnostics, gender parity, and diversity in science. She shared with the OMICS readership her experiences and insights into COVID-19 routine diagnostics, the concept and practice of ''One Health,'' women in science pioneering SARS-CoV-2 diagnostics, and changing the world for the better. We begin the interview by asking Dr. Eroglu Kesim what a regular day is like in a COVID-19 routine diagnostics laboratory, and what she considers as the most pressing challenge in the backstage of routine testing for the SARS-CoV-2.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.