After 50 years of receiving incorrect allergy diagnoses, Mercè Gutiérrez, 60, has finally been diagnosed with hereditary angioedema at Bellvitge Hospital. This rare condition also affects her mother, grandmother, uncle, sister, and nephews, totaling eight family members.
Gutiérrez recounts suffering severe swelling in her lips, face, hands, feet, and even intestines for years, coming close to death due to respiratory issues. Her mother and maternal grandmother also experienced similar symptoms, which were always attributed to a "family trait."
Despite suspicions of an allergy, specific tests were never performed. Treatment with Urbasol and antihistamines provided temporary relief but did not address the underlying cause. The definitive diagnosis of hereditary angioedema came six years ago, when Gutiérrez was 54.
Ramon Lleonart, head of the Allergy Service at Bellvitge, explains that hereditary angioedema is a rare genetic immunodeficiency, not an allergy, causing recurrent episodes of swelling in the skin, digestive system, or respiratory tract, which can be potentially serious.
The condition, with an incidence of one case per 50,000 inhabitants, exhibits incomplete penetrance and variable expressivity. It is estimated that between 800 and 1,000 people in Spain are affected, though a lack of awareness might increase this number.
Dr. Lleonart acknowledges a "significant diagnostic delay" in Gutiérrez's case, which took 54 years to be correctly diagnosed. The uncertainty and fear of attacks have marked Mercè's life, impacting her school years, work, and social life, as well as her role as her mother's caregiver.
The definitive diagnosis arrived after negative allergy tests and a referral to Bellvitge. Despite the initial shock of learning the condition is lifelong, Gutiérrez is currently doing well thanks to a treatment that has significantly improved her quality of life.
A key characteristic of hereditary angioedema is that the swelling is not accompanied by hives or itching, unlike common allergic reactions.
