Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema

Background: Hereditary angioedema (HAE) is a rare but life-threatening condition that results from mutations in C1-inhibitor (C1-INH). Since distinguishing HAE from other causes of angioedema (AE) is a critical problem in emergencies, the objective of the present study was to clarify the differences...

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Main Authors: Isao Ohsawa, Daisuke Honda, Seiji Nagamachi, Atsuko Hisada, Mamiko Shimamoto, Hiroyuki Inoshita, Satoshi Mano, Yasuhiko Tomino
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Allergology International
Subjects:
C4
Online Access:http://www.sciencedirect.com/science/article/pii/S1323893015300721
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spelling doaj-51f33d6e8c084f79a9c47d34c69eab512020-11-24T21:33:56ZengElsevierAllergology International1323-89302014-01-0163459560210.2332/allergolint.14-OA-0700Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with AngioedemaIsao Ohsawa0Daisuke Honda1Seiji Nagamachi2Atsuko Hisada3Mamiko Shimamoto4Hiroyuki Inoshita5Satoshi Mano6Yasuhiko Tomino7Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.Background: Hereditary angioedema (HAE) is a rare but life-threatening condition that results from mutations in C1-inhibitor (C1-INH). Since distinguishing HAE from other causes of angioedema (AE) is a critical problem in emergencies, the objective of the present study was to clarify the differences between HAE and other forms of AE. Methods: Seventy-two patients with AE were enrolled in this study. The medical history and laboratory data of patients with HAE at the first visit were compared to those with other types of AE. Results: Subjects included 23 patients with HAE, 33 with mast cell-mediated AE, 5 with drug-induced AE and 11 with idiopathic AE. The average age of HAE onset (19.5±8.0 years old) was significantly lower than in other groups. A family history of AE was noted in 82.6% of HAE patients, which was significantly higher than other groups. Swelling affecting the extremities and gastrointestinal (GI) tract was observed in the majority (60 to 80%) of HAE patients. Life threatening laryngeal edema was observed in 30.4% of HAE patients. In 95.6% of HAE patients serum levels of C4 were less than the lower limit of the normal range. In our subjects, the sensitivity and specificity of low C4 for HAE were 95.6% and 93.8%, respectively. Conclusions: Early onset of AE, positive family history, recurrent AE in the extremities and GI tract, and suffocation are distinctive characteristics of HAE. A low serum level of C4 is a useful marker for making a differential diagnosis of HAE.http://www.sciencedirect.com/science/article/pii/S1323893015300721C1-inhibitorC4d-dimerhereditary angioedema (HAE)suffocation
collection DOAJ
language English
format Article
sources DOAJ
author Isao Ohsawa
Daisuke Honda
Seiji Nagamachi
Atsuko Hisada
Mamiko Shimamoto
Hiroyuki Inoshita
Satoshi Mano
Yasuhiko Tomino
spellingShingle Isao Ohsawa
Daisuke Honda
Seiji Nagamachi
Atsuko Hisada
Mamiko Shimamoto
Hiroyuki Inoshita
Satoshi Mano
Yasuhiko Tomino
Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
Allergology International
C1-inhibitor
C4
d-dimer
hereditary angioedema (HAE)
suffocation
author_facet Isao Ohsawa
Daisuke Honda
Seiji Nagamachi
Atsuko Hisada
Mamiko Shimamoto
Hiroyuki Inoshita
Satoshi Mano
Yasuhiko Tomino
author_sort Isao Ohsawa
title Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
title_short Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
title_full Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
title_fullStr Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
title_full_unstemmed Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
title_sort clinical and laboratory characteristics that differentiate hereditary angioedema in 72 patients with angioedema
publisher Elsevier
series Allergology International
issn 1323-8930
publishDate 2014-01-01
description Background: Hereditary angioedema (HAE) is a rare but life-threatening condition that results from mutations in C1-inhibitor (C1-INH). Since distinguishing HAE from other causes of angioedema (AE) is a critical problem in emergencies, the objective of the present study was to clarify the differences between HAE and other forms of AE. Methods: Seventy-two patients with AE were enrolled in this study. The medical history and laboratory data of patients with HAE at the first visit were compared to those with other types of AE. Results: Subjects included 23 patients with HAE, 33 with mast cell-mediated AE, 5 with drug-induced AE and 11 with idiopathic AE. The average age of HAE onset (19.5±8.0 years old) was significantly lower than in other groups. A family history of AE was noted in 82.6% of HAE patients, which was significantly higher than other groups. Swelling affecting the extremities and gastrointestinal (GI) tract was observed in the majority (60 to 80%) of HAE patients. Life threatening laryngeal edema was observed in 30.4% of HAE patients. In 95.6% of HAE patients serum levels of C4 were less than the lower limit of the normal range. In our subjects, the sensitivity and specificity of low C4 for HAE were 95.6% and 93.8%, respectively. Conclusions: Early onset of AE, positive family history, recurrent AE in the extremities and GI tract, and suffocation are distinctive characteristics of HAE. A low serum level of C4 is a useful marker for making a differential diagnosis of HAE.
topic C1-inhibitor
C4
d-dimer
hereditary angioedema (HAE)
suffocation
url http://www.sciencedirect.com/science/article/pii/S1323893015300721
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