Year: 2025
Type: article
Study design: Case Report
Abstract: Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of angioedema that can affect the skin, gastrointestinal tract, and upper respiratory tract. Angioedema of the gastrointestinal tract can manifest as recurrent episodes of abdominal pain, which can often be misdiagnosed as a functional bowel disorder, a neuropsychiatric condition, or even an acute abdomen, which may result in unnecessary investigations and treatment, including surgeries. Angioedema of the skin can present as non-pitting swelling in the limbs and face. In contrast, when the respiratory tract is involved, it can sometimes lead to laryngeal edema, which can be life-threatening if not treated promptly. Diagnosing HAE can be particularly difficult for individuals without a family history of the condition. We present the case of a 30-year-old female patient who was diagnosed with HAE two decades after her initial symptoms appeared, which caused her significant suffering during that time without any targeted therapy. After her diagnosis, she received treatment with a plasma-derived C1-esterase inhibitor (C1-INH), which successfully decreased the frequency and severity of her symptoms and thus alleviated her suffering.
Source: Cureus
DOI: 10.7759/cureus.85019
Authors: Swarup Shrestha, Ajay K Yadav, Dibas Khadka, Ramila Shrestha, Mukesh S Paudel
Institutions: Bir Hospital, National Academy of Medical Sciences
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4410863698