Hereditary Angioedema Presenting as Isolated Jejunal Swelling

Area of Science:

• Gastroenterology
• Immunology
• Genetics

Background:

• Hereditary Angioedema (HAE) is a rare genetic disorder stemming from C1 esterase inhibitor deficiency or dysfunction.
• HAE attacks typically manifest without skin hives or itching, affecting the upper airway or gastrointestinal tract.
• Unusual site involvement in HAE can complicate diagnosis, leading to delays, unnecessary tests, and potential complications.

Observation:

• This case report describes a patient experiencing an acute attack of HAE.
• The primary manifestation observed was isolated involvement of the jejunum, a part of the small intestine.
• This presentation is notable as jejunal involvement is not a typical or common site for HAE flares.

Findings:

• The patient's symptoms were attributed to an HAE attack.
• The attack exclusively affected the jejunum, with no other apparent sites of swelling or distress.
• This represents the second documented instance of isolated jejunal involvement in Hereditary Angioedema.

Implications:

• Recognizing rare HAE presentations is vital for timely and accurate diagnosis.
• Prompt diagnosis and treatment of HAE flares are critical to prevent severe morbidity and mortality.
• This case underscores the importance of considering HAE in patients with unexplained gastrointestinal symptoms, even without typical HAE signs.