By Safia, Ehlers-Danlos syndrome, Hereditary Angioedema, Brazil, February 22, 2018


Safia is 14 years old and in 2016 she started to have a lot of health problems: unexpected, frequently and constant bleeding, severe abdominal pain, Pulmonary Atelectasis, skin swelling, allergic reactions, nausea and diarrhea. She bled though the vagina, anus, nose and throat, and her blood tests have shown constant hematuria. At the beginning of last year, Safia was diagnosed by a Brazilian doctor having Auto-Inflammatory Disease and Hereditary Angioedema. Nowadays she has constant crises of fever, edemas in subcutaneous tissues and viscera, urticary, vasculitis, arthritis, several abdominal pain, mialgia and bleeding (hematuria, epistaxis, metrorrhagia and gastrointestinal bleedind). During the crises she presents elevation of the erythrocyte sedimentation rate. She takes daily 2g of Tranexamic Acid and, during the crises, Icatinbanto (Firazyr) to prevent the generation or action of bradykinin. Since May/17 she started to have anti L1 canakinumab treatment and, in the middle of last year, she started a weekly treatment with Human C1-esterase inhibitor concentrate - 1000 UI (Berinert). Last month she was diagnosed by a Chilean doctor with Ehlers Danlos syndrome type III.  If you have a way to give Safia an appropriate treatment, please contact us.


*Find others with Ehlers-Danlos syndrome on RareConnect, the online platform for people affected by rare diseases.



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