Mucocutaneous Disease As A Presentation of Hereditary Angioedema. Report of 2 Cases

Background: Hereditary angioedema is an autosomal dominant disease, the affected gene encodes c1 esterase inhibitor located on chromosome 11q12-q13.1. The worldwide incidence ranges from 1 in 10,000 to 1 in 50,000. Three varieties are described. Type I is chacarterized by a lack of functional protein with complete absence of C1-INH activity. Type II has a dysfunctional protein with reduced activity of C1-INH. While Type III is due to mutations in the gene for clotting factor XII or defects not identified. Clinically is characterized by recurrent non itchy edema on skin and mucous membranes associated with pain syndromes, nausea, vomiting, diarrhea and compromise of the airway that is unresponsive to epinephrine, antihistamines and angioedema conventional  therapy. Because of this, it is imperative to establish the diagnosis to initiate early treatment with recombinant C1-INH or preventive treatment if there is no replacement therapy.

Methods: We present 2 cases with atypical manifestations characterized by fixed angioedema located in labial mucosa.

Results: Case 1: 23 years old health female with labial angioedema for 2 years without improvement in spite of having multiple treatments, including immunosuppressive agents. During the evaluation were discarded infectious, autoimmune and endocrine diseases, with only positive for type II hereditary angioedema with decreased function of C1-INH antigen: 76% (78-122%).

Case 2: 53 years old female with history of hypothyroidism and type 2 diabetes in control, with 2 years of labial mucosa angioedema unresponsive to treatment. During his study the only finding was decreased levels of C1 esterase inhibitor: 19% (21-39%).
In both cases the evolution has been torpid to treatment with androgens, getting partial response with immunosuppression based on azathioprine.

Conclusions: The cases presented correspond to an atypical presentation of hereditary angioedema and in spite of the treatments have only been able to obtain partial response. In the setting of having the replacement therapy improvement in symptoms is expected, offering the patients a better quality of life.

Bowen et al: 2010 International consensus algoritm for the diagnosis, therapy and management of hereditary angioedema.

Allergy, asthma and clinical Immunology 2010 6:24. Grigoriadou S. et al, Clinical and experimental Immunology 2009,  155:367-377.