Researchers reported on a case of hereditary angioedema in a 36-year-old Japanese woman with normal C1 inhibitor and psychiatric comorbidities including dissociative disorder. The case, published in The Journal of Dermatology, reported the patient had lip, tongue, and finger edema attacks and relatives who had experienced facial angioedema episodes.

“Hereditary angioedema (HAE) is a rare, inherited, primarily bradykinin-mediated disorder manifesting as recurrent cutaneous or submucosal edema affecting the skin, abdomen, and upper respiratory tract, classified as C1 inhibitor (C1-INH) deficiency/dysfunction (HAE-1/ 2) or HAE with normal C1 inhibitor (HAE-nC1-INH),” the authors wrote.

“We report a therapeutically challenging steroid-responsive case of HAE-nC1-INH, with psychiatric comorbidities possibly contributing to frequent relapses.”


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In addition to normal C1 inhibitor, the patient had no urticaria and no erythema marginatum lesions. Initial treatment with antihistamines was ineffective, as was therapy with prophylactic human C1-esterase inhibitor and berotralstat.

Tranexamic acid and loratadine reduced the frequency of attacks, but low-dose prednisolone (<10 mg/day) completely resolved the attacks and was gradually tapered. Two years later, however, the attacks returned with abdominal pain and respiratory problems, leading to emergency room visits.

The patient had a good response to icatibant infusions and, ultimately, treatment with lanadelumab offered long-term control of the attacks and the icatibant infusions were gradually eliminated.

Based on the familial experience with HAE attacks, the good response to icatibant and lanadelumab, the lack of response to antihistamines, and normal to near-normal C4 and C1-INH function, the patient was diagnosed with HAE-nC1-INH.

The authors noted that the underlying psychiatric comorbidities potentially contributed to the patient’s frequent HAE relapses, given that such relapses entail significant anxiety and depression and can even be triggered by mental or emotional stress.

Reference

Barit JV, Hiroyasu S, Terashima Y et al. Hereditary angioedema with normal C1 inhibitor with steroid responsiveness in a patient with psychiatric comorbidities. J Dermatol. Published online December 27, 2022. doi:10.1111/1346-8138.16713