Miscellaneous |

Rare Case of Hereditary Angioedema in a Male With Normal C1 Esterase Inhibitor Levels FREE TO VIEW

Deepak Sharma, DO; Varun Jain, MD; Jessica Stoeckel, MD
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Icahn School of Medicine, Mount Sinai Bronx VAMC, Bronx, NY

Chest. 2015;148(4_MeetingAbstracts):648A. doi:10.1378/chest.2269503
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SESSION TITLE: Miscellaneous Cases - Student/Resident

SESSION TYPE: Student/Resident Case Report Slide

PRESENTED ON: Tuesday, October 27, 2015 at 04:30 PM - 05:30 PM

INTRODUCTION: Hereditary Angioedema (HAE) is an autosomal dominant disease seen predominantly in females, caused by an inherited deficiency of C4 or C1 esterase inhibitor (C1EI) function. We report a rare case of a male presenting with HAE in the setting of normal C1EI levels.

CASE PRESENTATION: A 29-year-old male without significant medical history presented to the emergency department (ED) with complaint of severe abdominal pains and rash. Symptoms started with a migratory rash for 2 weeks, without fever, photophobia, neck rigidity, joint pains, recent travel, or sick contacts. He took a course of prednisone prescribed by his primary doctor for urticarial rash, and the rash subsided. However, it returned 10 days later along with facial swelling. Symptoms resolved with oral prednisone. That evening, he developed new severe, diffuse, sharp abdominal pains, so his family brought him to the ED. He was treated with a dose of intravenous (IV) morphine and discharged. After repeated ED visits for recurring symptoms, he was admitted to the intensive care unit to observe for angioedema and for further work-up. His brother had a similar presentation 1 year ago and was diagnosed with urticarial vasculitis. Physical exam revealed a migrating rash with central clearing all over his body and facial swelling. CBC, ANA panel, rheumatoid factor, Lyme titers, Strongyloides and Parvovirus B19 antibodies, C1EI levels and C4 were all normal. Upper GI barium study and EGD were normal. Hydromorphone was given for pain control. Antihistamines and high dose IV steroids, which were later tapered to oral prednisone, were given for rash and facial swelling. Once abdominal pains resolved and he tolerated oral diet, he was discharged with a diagnosis of HAE Type 3 and treated with a prolonged course of oral steroids and antihistamines.

DISCUSSION: Unusual variants of HAE with normal biochemical C1EI function have been reported mostly in females. The genetic inheritance pattern is suspected to be X-linked dominant, labeled as HAE type 3. However, we present a male patient with suspected HAE and normal C1EI levels. Currently there is no reliable way to diagnose HAE type 3. HAE is treated with supportive care and C1EI concentrate, if available, during an acute attack. Fresh Frozen Plasma is a controversial choice of therapy. Longer-term prophylaxis of attacks may be achieved with androgen derivatives, like Danazol, and antifibrinolytic agents. Studies show that Danazol prevents attacks in hereditary angioedema and raise C1EI and C4 levels.

CONCLUSIONS: Clinicians must consider HAE type 3 in males presenting with unexplained rash, angioedema and positive family history, despite it being more common in females.

Reference #1: Bork, K. et al. Hereditary Angioedema with Normal C1 Inhibitor: Clinical Symptoms and Course. The American Journal of Medicine. Volume 120, Issue 11, November 2007

Reference #2: Nzeako, U.C. et al. Hereditary Angioedema: A Broad Review for Clinicians. JAMA. Vol 161, No. 20. November 2001

DISCLOSURE: The following authors have nothing to disclose: Deepak Sharma, Varun Jain, Jessica Stoeckel

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