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Background: Hereditary angioedema (HAE) with C1 inhibitor (C1INH) deficiency is an inherited disease characterized by sudden, recurrent episodes of edema that involve the skin, gastrointestinal tract, respiratory tract, and other organs. Objective: Because it takes a long time from the first symptoms to diagnosis, we aimed to identify HAE in untested first-degree blood relatives among some of our patients with HAE in our outpatient clinic at Hospital Universitario Clementino Fraga (HUCFF), Federal University of Rio de Janeiro. Methods: Untested first-degree relatives of patients with HAE C1INH, even those who were asymptomatic, were identified and invited to participate. Those who agreed to participate answered a specific questionnaire and had a blood sample collected for complement testing. Results: Fifty untested first-degree relatives of 30 index patients with HAE C1INH were identified, and both groups were analyzed. The mean ± standard deviation (SD) age of the index patients group was 37.08 ± 16.56 years (range, 13-73 years), with a high frequency in women (n = 24 [80.0%]). Most of them had severe (n = 23 [76.7%]) and moderate (n = 7 [23.3%]) attacks. None were asymptomatic. The mean ± SD time between the first symptoms and diagnosis was 20.2 ± 11.06 years (range, 0-48 years) in that group. In the first-degree relatives group, 30 new cases of HAE C1INH (60%) were identified. Conclusion: We found that there was a long time between early manifestations and a diagnosis of HAE. First-degree relatives of patients with HAE patients are at risk for having the disease. Sixty percent were newly diagnosed with HAE and with C1INH deficiency in our study. So, screening of family members, including individuals who were asymptomatic, is the key for earlier diagnosis and effective treatment.

Background: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been identified in a subset of patients with this condition. Our aim was to investigate mutations in the F12 gene in patients with HAE with normal C1-INH from Brazil. Methods: We studied 5 Brazilian families with index female patients who presented with recurrent angioedema with normal C1-INH and C4 levels. Genomic DNA was isolated from whole blood and PCR was performed. Mutations were detected by the sequencing of exon 9 of the F12 gene and allelic discrimination. Results: The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women). Mean age at onset of symptoms among the FXII-HAE patients was 13.8 years (range 6-25 years). Recurrent abdominal pain (100%) and subcutaneous angioedema (87.5%) were the most frequent clinical presentations. Two patients presented with associated laryngeal edema. In keeping with previous observations in patients with both C1-INH-HAE and HAE with normal C1-INH, all 7 women with FXII-HAE reported triggering or worsening of symptoms upon intake of estrogen-containing oral contraceptives and/or pregnancy. Conclusions: We report for the first time in Brazil a mutation in the F12 gene as a likely cause of HAE with normal C1-INH in patients with recurrent attacks of angioedema and/or abdominal pain. A higher frequency of abdominal pain attacks and onset of symptoms at a younger age were observed among Brazilian patients when compared to those from other parts of the world.

Background Angioedema is a highly heterogeneous group of conditions and is characterized by sudden, pronounced swelling of the lower dermis and subcutaneous. Because of its frequent coexistence with urticaria, it is often classified in the same manner as urticaria. However, it also includes categories not associated with urticaria. Angioedema without urticaria is characterized by hereditary and acquired angioedema and histaminergic and nonhistaminergic angioedema. The prevalence of subtypes of angioedema without urticaria was estimated at the Clinical Immunology outpatient service of an University Hospital, in Rio de Janeiro.

Methods We report a case of drug rash induced by levothyroxine and currently oral desensitization. A 31 year-old woman had been diagnosed as Hashimoto’s Thyroiditis. She was having levothyroxine for 9 years when she begun to present bilateral eyelids maculopapular rash. Blood exams and physical examination were normal except for the eyelids rash. As she stopped using levothyroxine, the rash has disappeared. Her endocrinologist prescribed her other brands of levothyroxine, and the patient reported the same reaction.

Background Progesterone induced dermatitis is a rare autoimmune response to endogenous progesterone that usually occurs in fertile females, in the third decade. Skin lesions occur periodically during the luteal phase of the menstrual cycle due to increase of progesterone, the symptom usually occurs 3-10 days prior to the onset of menstrual flow and resolve 2 days into menses. It may present a variety of cutaneous and mucosal manifestations, from a mild urticarial to an anaphylaxis.

Background Chronic spontaneous urticaria (CSU) is more common in adults, especially middle-aged women. The condition resolves spontaneously within 6 months in 30 to 55% of patients but can persist for years in others. It has a devastating effect on the quality of life of those who experience it. Although the mechanisms are not fully elucidated, anti IgE recombinant humanized monoclonal (Omalizumab) has been recommended, according to the latest guidelines EAACI/GA2LEN/EDF & WAO, with encouraging results in management of refractory CSU as opposed to the usual and alternative therapies.

Short-term prophylaxis (STP) with plasma derived human C1 inhibitor concentrate (pdhC1-INH) in two pregnant women with hereditary angioedema (HAE): an experience in Rio de Janeiro – Brazil Solange Oliveira Rodrigues Valle, Maria Luiza Oliva Alonso, Sergio Duarte Dortas Junior, Soloni Afra Pires Levy, Ana Paula Ferracciu Coutinho Millet, Alfeu Tavares Franca, Alfeu Tavares Franca, Ana Luiza Ribeiro Bard De Carvalho