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.

World Health Organization, named the disease caused by Severe Acute Respiratory syndrome-coronavirus-2 coronavirus on 11 February 2020 as Coronavirus Disease-2019 (COVID-19). A person who has clinical symptom and a history of contact with a patient with confirmed COVID-19 is identified as a ''possible case'' and is expected to be confirmed by laboratory test. A confirmed case is asymptomatic/symptomatic suspected individual with a positive molecular test. Specific diagnosis is made by specific molecular tests on respiratory samples (orafarengeal/ nasopharyngeal swab/sputum/endotracheal aspirates and bronchoalveolar lavage). The virus can also be detected in the stool and in severe patients for a short time in the blood. The number of molecular tests that should be used in the case of a pandemic is rapidly increasing. At the beginning of the outbreak in Turkey, tests could only be performed in suspected patients in the central unit and then they began to be performed in other reference laboratories. Rapid antigen tests did not provide the desired performance, while rapid antibody tests were distributed to the field to support polymerase chain reaction tests and determine immunity. Microbiology Laboratory is indispensable in controlling the COVID-19 pandemic.

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