History: 36 yo female with acute onset abdominal pain. Has history of asthma and facial swelling. (This is a hard one)
Solution: Hereditary angioedema
Hereditary Angioedema (HAE) is a very rare and potentially life threatening genetic condition that occurs in about 1/10,000 to 1/50,000 people. HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face, and airway.In addition, patients often have bouts of excruciating abdominal pain, nausea, and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.
There are two specific blood tests that confirm HAE: 1. C1-inhibitor quantitative (antigenic) 2. C1-inhibitor functional
Attacks are usually spontaneous, but can be brought on by stressors. The attacks can last from hours to days and the only treatment that can be performed for acute attacks in the US is supoortive therapy. There are medications for long term therapy, but they are variably effective.
Please note that much of this information was taken veratim from the angioedema website. Please see their site www.haea.org for further information.
Hereditary Angioedema (HAE) is a very rare and potentially life threatening genetic condition that occurs in about 1/10,000 to 1/50,000 people. HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face, and airway.In addition, patients often have bouts of excruciating abdominal pain, nausea, and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.
There are two specific blood tests that confirm HAE: 1. C1-inhibitor quantitative (antigenic) 2. C1-inhibitor functional
Attacks are usually spontaneous, but can be brought on by stressors. The attacks can last from hours to days and the only treatment that can be performed for acute attacks in the US is supoortive therapy. There are medications for long term therapy, but they are variably effective.
Please note that much of this information was taken veratim from the angioedema website. Please see their site www.haea.org for further information.
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