A Rare Case of Hereditary Angioedema with Long Term Suffering of the Patient for Misdiagnosis
Abstract
Angioedema is a rare disease with low prevalence (1 to 9 cases per 100,000 people). It results from deficiency or
dysfunction of the serum Complement I-esterase inhibitor (C1-INH). Angioedema can be genetic or acquired. Acquired
angioedema (AAE) is due to an acquired deficiency of C1-INH, caused by cither consumption (type 1) or inactivation (type
2) of CIINH.
There are two types of hereditary angioedema (HAE): type | (85%), type II (15%), and both typically presents with
recurrent episodes of facial ocdema, and ocdema of mucosa of the gastrointestinal tract and upper airways. The onset of
‘symptoms can occur at any age, but is most common in childhood and adolescence. Early treatment is crucial 10 prevent
complications and reduce intensity of oedema. Preventive approaches include antifibrinolytics, danazol and avoidance of
possible trigger. The condition frequently goes untreated for many years duc to insufficient clinical awareness.
Consequently, there is a significant necessity to enhance clinical awareness and diagnostic capabilities to improve the
detection and management of HAE
Keywords
Autosomal dominant
Hereditary angioedema
Complement C4
Serum C1 inhibitor
Facial swelling.
Introduction
Hereditary angioedema (HAE) is an uncommon
genetic condition resulting from the deficiency or
dysfunction of the serum CI esterase inhibitor.
Prevalence of HAE ranges from 1 in 10,000 to | in
150,000 and has no differences based on sex or
ethnicity’. HAE typically presents with recurrent
episodes of angioedema affecting the gastrointestinal
tract, skin, and/orupper respiratory tract”, The
diagnosis of HAE (type I or II) is usually done by
clinical history and physical examination suggestive of
the condition, along with significantly low levels of
complement C4 in complement tests on investigation *
3, A family history of angioedema is a strong clue for
the diagnosis. As HAE is rare, and symptoms often
resemble other conditions, establishing a diagnosis of
HAE can be difficult This case also highlights how
skin-related symptoms and signs can provide
important clues in diagnosing recurrent episodes of
abdominal pain.