Extremely Delayed Diagnosis of Type II Hereditary Angioedema: Case Report and Review of the Literature

We present a case with extremely late diagnosis of type II hereditary angioedema (HAE). Given recent advances in HAE treatment, we want to bring physician awareness to this condition and aid in earlier detection. HAE is a disorder associated with episodes of angioedema of the face, larynx, lips, abd...

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Bibliographic Details
Published in:Military medicine 2018-11, Vol.183 (11-12), p.e765-e767
Main Authors: Berger, Jeremy, Carroll, Jr, Michael P, Champoux, Edward, Coop, Christopher A
Format: Article
Language:English
Subjects:
Abdomen
Abdominal Pain - etiology
Aged
Airway management
Angioedema
Case reports
Complement C1q - analysis
Constipation
Delayed Diagnosis - adverse effects
Delayed Diagnosis - mortality
Edema
Family medical history
Hereditary Angioedema Types I and II - blood
Hereditary Angioedema Types I and II - complications
Hereditary Angioedema Types I and II - diagnosis
Humans
Larynx
Male
Medical diagnosis
Medical referrals
Mutation
Pain
Urticaria
Veterans
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Summary:We present a case with extremely late diagnosis of type II hereditary angioedema (HAE). Given recent advances in HAE treatment, we want to bring physician awareness to this condition and aid in earlier detection. HAE is a disorder associated with episodes of angioedema of the face, larynx, lips, abdomen, or extremities. Late diagnosis of HAE can lead to significant morbidity and is severely impairing due to recurring attacks. The diagnosis of HAE is ordinarily made during childhood and adolescence. Delayed diagnoses in early and middle adulthood have been documented in the literature. Gastrointestinal symptoms are common features of HAE and can be misdiagnosed as disease of primary gastrointestinal pathology, such as irritable bowel syndrome, recurrent pancreatitis, or appendicitis. These attacks are characterized by recurrent attacks of subcutaneous and submucosal edema without the presence of urticaria.We present a case of an elderly veteran whose diagnoses was extremely delayed into the eighth decade of life subsequent to unexplained abdominal symptoms. After diagnosis, the patient's symptoms were well controlled with medication due to advances in HAE treatment. To prevent further atypically delayed diagnoses, physicians should consider HAE in patients with recurrent attacks of unexplained abdominal pain.
ISSN:0026-4075
1930-613X
DOI:10.1093/milmed/usy031