Hereditary angioedema with C1Inh deficiency

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Hereditary angioedema with C1Inh deficiency

Synonyms: HAE with C1 inhibitor deficiency | HAE with C1Inh deficiency | Hereditary angioneurotic edema with C1 inhibitor deficiency | Hereditary angioneurotic edema with C1Inh deficiency

A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin severe abdominal symptoms such as pain and swelling and/or respiratory distress due to upper respiratory airways involvement. Genital bladder muscle or joint swelling may occur in some cases.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Accessia Health

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.


Unfixed produces media that elevates stories of people living with chronic illness, rare disease and disability. The Unfixed portfolio of projects demonstrates that living well is not about eradicating our wounds and weaknesses but understanding how they complete our identities and equip us to help others. Current and past productions include multiple mini-series, a podcast and feature film.

Clinical Trials

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