TY - JOUR
T1 - Hereditary angioedema
T2 - a mother diagnosing her child using Google as a diagnostic aid
AU - Srikantharajah, Thanusha
AU - Jakobsen, Marianne Antonius
AU - Bygum, Anette
PY - 2018/10/3
Y1 - 2018/10/3
N2 - Hereditary angioedema (HAE), due to C1-inhibitor deficiency, is a rare autosomal dominant and potentially life-threatening disease characterised by recurrent oedema attacks of skin, mucosa and viscera. Due to the rarity and the fact that symptoms of HAE imitate other forms of angioedema and other conditions, HAE may be misdiagnosed, especially in emergency settings. Consequently, patients with HAE may experience significant delays in diagnosis. Without an accurate diagnosis patients with HAE may not receive proper treatment. At times 'Doctor Google' may be an important tool in establishing the diagnosis. The aim of this case report is to emphasise the importance of listening to patients and relatives and being humble to 'Doctor Google'. Furthermore, the aim is to remind all healthcare personal of HAE and the importance of considering the rare differential diagnoses to common symptoms.
AB - Hereditary angioedema (HAE), due to C1-inhibitor deficiency, is a rare autosomal dominant and potentially life-threatening disease characterised by recurrent oedema attacks of skin, mucosa and viscera. Due to the rarity and the fact that symptoms of HAE imitate other forms of angioedema and other conditions, HAE may be misdiagnosed, especially in emergency settings. Consequently, patients with HAE may experience significant delays in diagnosis. Without an accurate diagnosis patients with HAE may not receive proper treatment. At times 'Doctor Google' may be an important tool in establishing the diagnosis. The aim of this case report is to emphasise the importance of listening to patients and relatives and being humble to 'Doctor Google'. Furthermore, the aim is to remind all healthcare personal of HAE and the importance of considering the rare differential diagnoses to common symptoms.
KW - dermatology
KW - medical education
U2 - 10.1136/bcr-2018-225825
DO - 10.1136/bcr-2018-225825
M3 - Journal article
C2 - 30287627
AN - SCOPUS:85054461354
SN - 1757-790X
VL - 2018
JO - BMJ Case Reports
JF - BMJ Case Reports
M1 - 225825
ER -