Abstract:

The term 'angioedema' describes a circumscribed edema of the skin, gastrointestinal (GI) tract or respiratory tract. Classic hereditary angioedema (HAE) can be associated with quantitative (type I) or qualitative (type II) deficiency of C1 esterase inhibitor (C1-INH), which is caused by mutations in the C1-INH gene. In classic HAE, abdominal attacks are mostly characterized by pain, vomiting and diarrhea, but rarely occur in the absence of other clinical features. Here we describe a case of angioedema of the bowel, a rare presentation, occurring in an elderly with C1-INH deficiency.

A 50-year-old man presented with an 8-month history of recurrent episodic severe abdominal pain, associated with loose bowel. Each episode lasted for a couple of days and would resolve spontaneously. The patient's medical history included hypertension, transurethral resection of the prostate for benign prostatic hyperplasia, No h/s/o any allergies. On extensive evaluation, which included several EGD’s and colonoscopies over the span of 8 months, with normal endoscopic findings. Computed tomography with contrast during episode of attack shows extensive concentric colonic and small bowel thickening with trace ascites. Most of the other workup was grossly within normal limits other than Levels of C4 (< 9 mg/dL; reference range 15 to 50 mg/dL), CH50 (< 13 U/mL; reference range 29 to 45 U/ml) and C1 inhibitor (< 4 mg/dL; reference range 14 to 30 mg/dL) were all low, supporting a diagnosis of acquired angioedema (AAE) with isolated bowel involvement. Said patient's symptoms improved with antihistamine and supportive treatment, with danazol treatment planned on an outpatient basis for prophylaxis after discharge. Patient didn’t report any attack post discharge.

References:

[1].     Bork K, Staubach P, Eckardt AJ, Hardt J. Symptoms, Course, and Complications of Abdominal Attacks in Hereditary Angioedema due to C1 Inhibitor Deficiency. Am J Gastroenterol. 2006; 101:619–27.

[2].     Bowen T. et al. Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. Ann Allergy Asthma Immunol. 2008;100(Suppl): S30–S40.

[3].     Cicardi M, Zingale L. Clinical manifestations of HAE. In: Hereditary and acquired angioedema: Problems and progress. Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol. 2004; 114: S55–58.

[4].     Caldwell JR, Ruddy S, Schur PH, Austen KF. Acquired C1 inhibitor deficiency in lymphosarcoma. Clin Immunol Immunopathol. 1972; 1:39–52.

[5].     Donaldson VH, Evans RR. A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C1-esterase. Am J Med. 1963; 35:37–44

[6].     Landerman NS. Hereditary angioneurotic edema. I. Case reports and review of the literature. J Allergy. 1962; 33:316–29.

[7].     Osler W. Hereditary angioneurotic edema. Am J Med Sci. 1888; 95:362–367.

[8].     Quincke H. Concerning the acute localized oedema of the skin. Monatsh Prakt Derm. 1882; 1:129–131.

[9].     Rosen FS, Davis AE Jr. Deficiencies of C1 inhibitor. Best Pract Res Clin Gastroenterol. 2005; 19:251–261.