Hereditary angioedema is a rare, autosomal dominant disease inherited. The cause is a quantitative or qualitative congenital deficit in C1 inhibitor. Various clinical symptoms, in particular of sub-cutaneous, upper airways and digestive origin, have been described. Life threatening conditions may be observed. Little information is available on digestive tract localization corresponding to intestinal intussusception associated with hereditary angioedema in children. We report a case of hereditary angioedema observed in a 15-years-old girl who presented such features. We propose a review of the literature and discuss the curative treatment of digestive crisis in children with hereditary angioedema.
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Validating and utilizing dried blood spots for family screening: Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).
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Division of Rheumatology & Clinical Immunology, Department of Medicine, Queen Mary Hospital, Hong Kong.
Background: Hereditary angioedema (HAE) is a rare genetic disorder with potentially life-threatening consequences, traditionally diagnosed by conventional laboratory methods that can be resource intensive and inconvenient. Incorporating dried blood spot (DBS) tests may be a promising alternative for diagnosing HAE and family screening.
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