Background/Purpose: Hereditary Angioedema (HAE) is a rare disorder caused by deficiency or impaired function of C1 esterase inhibitor.  Early and accurate diagnosis of HAE is important to initiate appropriate therapy and avoid potentially fatal outcomes. However, HAE symptoms can mimic other conditions potentially leading to incorrect diagnosis and delay in treatment. Our purpose was to investigate the proportion of hand, feet and joint swelling as presenting signs of hereditary angioedema across different countries. 

Methods: A web-based survey was conducted among physicians who treated HAE patients within their practice in over 30 countries in North and Latin America, Europe, Asia, Africa and Oceania. Physicians voluntarily accessed and completed the internet-based survey between November 2010 and February 2011. 

Results: A total of 201 international physicians who treated HAE patients completed the survey.  Most patients treated by surveyed physicians were under 35 years-old (67%) and symptoms had first presented during childhood or adolescence in 77% of all cases. Among respondents there was widespread consensus about delay between the first HAE attack and diagnosis. Overall, only 14% of treated patients had been diagnosed within the first year and in 48% of cases there was a reported delay of 4 or more years. The patient’s most common complaint that prompted evaluation for HAE was facial swelling.  Nonetheless, hand, feet or joint swelling were listed as one of the two most common symptoms at onset by 40% of physicians. Interestingly, hand, foot and joint swelling were also ranked among the three most problematic symptoms during attacks by 35% of physicians surveyed. 

Conclusion: HAE is a rare condition that usually presents during the first two decades of life and may present with hand, feet and joint swelling as main symptom. In addition, an important proportion of surveyed physicians thought that this is one of the most problematic symptoms of patients with HAE. Accordingly, HAE should be included in the differential diagnosis of certain types of joint and extremity edema, and thus, increased awareness of the pediatric rheumatology community could lead to a decrease in the morbidity and mortality of this condition.

 

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/joint-hand-and-feet-swelling-as-a-presenting-symptom-of-hereditary-angioedema/