Infant’s recurrent swelling shows how angioedema can mimic lymphedema
Normal lymphatic scan helped rule out lymphedema before final diagnosis
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An infant with recurrent episodes of swelling in her limbs and around her eyes was ultimately diagnosed with idiopathic angioedema after tests ruled out lymphedema and other potential causes, according to a case report.
The 4-month-old girl was initially referred for evaluation for possible lymphedema, a condition in which fluid builds up in tissues when the lymphatic system cannot properly drain it. However, a later scan showed her lymphatic function was normal, helping doctors rule out lymphedema as the cause of her symptoms.
Why angioedema can be mistaken for lymphedema
The researchers emphasized the importance of differentiating idiopathic angioedema from lymphedema, “because the prognosis and treatment of the conditions are very different.”
Her case was described in “Angioedema Presenting as Infant-Onset Primary Lymphedema,” published in the Journal of Vascular Anomalies.
Angioedema is characterized by swelling in the deeper layers of the skin or mucous membranes. It may be associated with an allergic reaction or occur due to certain medications or genetic mutations, or in association with other health conditions.
Here, researchers described the case of an infant girl with idiopathic spontaneous angioedema, a form of angioedema that has no obvious cause.
The infant was initially brought to the emergency department with repeated episodes of swelling in her limbs and around her eyes. The first episode began immediately after she received her 4-month vaccinations, affected both legs, and resolved within 24 hours.
A few weeks later, she experienced several swelling episodes affecting her feet, legs, and hands, with more pronounced swelling on the left side. During these episodes, she also developed swelling around her eyes that lasted about three hours. The swelling was sometimes accompanied by temporary blue or white discoloration on her left side and face, lasting up to one hour, and by hives without itching or breathing problems.
Normal lymphatic function helped rule out lymphedema
Initial testing found no heart dysfunction or protein loss that could explain the widespread swelling. She was then referred to a lymphedema program for further evaluation, but a lymphatic scan performed at 11 months showed normal lymphatic function, helping rule out primary lymphedema as the cause of her symptoms.
She was subsequently evaluated by allergy and immunology specialists. Tests showed normal levels and function of C1 esterase inhibitor, a protein involved in hereditary angioedema. Genetic testing identified a mutation in the filaggrin gene, which helps maintain the skin barrier. The mutation is associated with a greater risk of atopic dermatitis, a chronic inflammatory skin condition that can cause dry, itchy and reddened skin.
Based on these findings, the girl was diagnosed with idiopathic spontaneous angioedema. Treatment with the antihistamine cetirizine improved control of her swelling episodes.
The researchers noted that idiopathic spontaneous angioedema is “often underrecognized, leading many patients to undergo extensive evaluation for other conditions.” They added that idiopathic angioedema and lymphedema “can be distinguished by history and physical examination,” with the diagnosis of idiopathic angioedema requiring “allergy/immunology evaluation.”
Idiopathic angioedema causes episodes of swelling that come and go and is generally treated with antihistamines, while primary lymphedema causes chronic, progressive swelling and is managed differently, including with compression therapy.
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