Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist
Hereditary angioedema (HAE) caused by a deficiency of C1 esterase inhibitor enzyme (C1-INH) is a very rare, autosomal dominantly inherited genetic disorder, characterized by recurrent peripheral angioedema, painful abdominal attacks and episodes of laryngeal edema. Abdominal attacks are frequent sym...
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Online Access: | https://doi.org/10.1515/jim-2016-0072 |
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doaj-220c3cdd30e245a1b6e4a24b78efb3022021-09-06T19:40:34ZengSciendoJournal of Interdisciplinary Medicine2501-81322016-12-011328729210.1515/jim-2016-0072jim-2016-0072Hereditary Angioedema: a Challenging Diagnosis for the GastroenterologistGábos Gabriella0Moldovan Dumitru1Dobru Daniela2 Gastroenterology Department, Mureș County Hospital, Tîrgu Mureș, Romania Allergology-Immunology Department, Mureș County Hospital, Tîrgu Mureș, Romania Gastroenterology Department, Mureș County Hospital, Tîrgu Mureș, RomaniaHereditary angioedema (HAE) caused by a deficiency of C1 esterase inhibitor enzyme (C1-INH) is a very rare, autosomal dominantly inherited genetic disorder, characterized by recurrent peripheral angioedema, painful abdominal attacks and episodes of laryngeal edema. Abdominal attacks are frequent symptoms in adult HAE patients, occurring in more than 90% of the cases. Angioedema in the bowel or abdomen can occur in the absence of cutaneous manifestations and may be easily misdiagnosed unless the clinician has a high degree of awareness to include HAE in the differential diagnosis. Misdiagnosis is associated with inadequate treatments, including unnecessary surgical procedures. Any patient who presents recurrent episodes of swelling should be evaluated for HAE caused by C1-INH deficiency. New therapies could save lives and dramatically improve their quality of life.https://doi.org/10.1515/jim-2016-0072hereditary angioedemac1-inh deficiencyabdominal attacks |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Gábos Gabriella Moldovan Dumitru Dobru Daniela |
spellingShingle |
Gábos Gabriella Moldovan Dumitru Dobru Daniela Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist Journal of Interdisciplinary Medicine hereditary angioedema c1-inh deficiency abdominal attacks |
author_facet |
Gábos Gabriella Moldovan Dumitru Dobru Daniela |
author_sort |
Gábos Gabriella |
title |
Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist |
title_short |
Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist |
title_full |
Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist |
title_fullStr |
Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist |
title_full_unstemmed |
Hereditary Angioedema: a Challenging Diagnosis for the Gastroenterologist |
title_sort |
hereditary angioedema: a challenging diagnosis for the gastroenterologist |
publisher |
Sciendo |
series |
Journal of Interdisciplinary Medicine |
issn |
2501-8132 |
publishDate |
2016-12-01 |
description |
Hereditary angioedema (HAE) caused by a deficiency of C1 esterase inhibitor enzyme (C1-INH) is a very rare, autosomal dominantly inherited genetic disorder, characterized by recurrent peripheral angioedema, painful abdominal attacks and episodes of laryngeal edema. Abdominal attacks are frequent symptoms in adult HAE patients, occurring in more than 90% of the cases. Angioedema in the bowel or abdomen can occur in the absence of cutaneous manifestations and may be easily misdiagnosed unless the clinician has a high degree of awareness to include HAE in the differential diagnosis. Misdiagnosis is associated with inadequate treatments, including unnecessary surgical procedures. Any patient who presents recurrent episodes of swelling should be evaluated for HAE caused by C1-INH deficiency. New therapies could save lives and dramatically improve their quality of life. |
topic |
hereditary angioedema c1-inh deficiency abdominal attacks |
url |
https://doi.org/10.1515/jim-2016-0072 |
work_keys_str_mv |
AT gabosgabriella hereditaryangioedemaachallengingdiagnosisforthegastroenterologist AT moldovandumitru hereditaryangioedemaachallengingdiagnosisforthegastroenterologist AT dobrudaniela hereditaryangioedemaachallengingdiagnosisforthegastroenterologist |
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