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Int J Hematol (2013) 97:654656 DOI 10.1007/s12185-013-1330-z
CASE REPORT
Angioedema with normal C1q and C1 inhibitor: an atypical presentation of Waldenstrm macroglobulinemia
Anas Khanfar Anita Trikha Rana Bonds
Bagi Jana
Received: 3 December 2012 / Revised: 9 April 2013 / Accepted: 9 April 2013 / Published online: 17 April 2013 The Japanese Society of Hematology 2013
Abstract Angioedema is a recurrent, non-pitting, nonpruritic, transitory swelling due to transient increase of endothelial permeability in the capillaries of the deep cutaneous and mucosal layers. Angioedema is generally categorized based on etiology, and characteristic lab ndings are associated with each category. Cases of acquired angioedema associated with myeloproliferative disorders have been described in the literature, but these have been associated with a characteristic low C1q, a dening laboratory nding in acquired angioedema. Here we present a case of 68-year-old female with acquired angioedema that was not associated with low C1q, but was found to have Waldenstrm disease. Her angioedema responded dramatically to combination therapy consisting of bortezomib, rituximab, and dexamethasone.
Keywords Angioedema Acquired angioedema
Waldenstrm macroglobulinemia C1q
Case report
A 68 year old white female with a history of allergic rhinitis and presumed intermittent asthma who was seen in allergy and immunology clinic with 1 year history of recurrent, progressive frequent painful episodes of lip, face and tongue swelling, without any associated urticaria (see Fig. 1). These episodes usually last 2448 h and resolve spontaneously. She had no evidenced triggers and her symptoms failed to respond to high doses of
antihistamines. She even experienced an episode of laryngeal edema requiring mechanical ventilation. On review of systems, she noted signicant fatigue, but denied chronic abdominal pain or fevers. She had no bone pain and only had some intentional weight loss. Physical examination was unremarkable with the exception of frequent angioedema. As part of the evaluation for her angioedema, her C4 was 15 mg/dL (normal range 1040 mg/ dL), C1q was 225 ug/mL (normal range 109242 ug/mL). C1 inhibitor level (C1-INH) was 27 mg/dL (normal range 2139 mg/dL), C1-INH function was 102 % (normal range C 40 %) and tryptase was 8.3 ug/L (normal range0.410.9 ug/L). ANA was negative. Further lab work demonstrated an elevated total protein of 8.4 g/dL with a normal albumin (4.4 g/dL) with ESR of...