Bruise-like facial swelling leads to HAE diagnosis in 7-year-old girl

A 7-year-old girl in Iran with repeated episodes of unexplained swelling was ultimately diagnosed with hereditary angioedema (HAE) after bruise-like discoloration appeared around one eye and then developed into swelling on one side of her face, according to a case report.

Laboratory testing confirmed that the girl had type 1 HAE, the most common form of the rare genetic disease. Treatment resolved the swelling within days, and her diagnosis prompted family screening, which revealed that her mother also had type 1 HAE but had never been diagnosed.

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Pediatric HAE can mimic more common conditions

“This case highlights the diagnostic challenges of pediatric HAE, particularly when clinical manifestations mimic more common allergic, infectious, or traumatic conditions,” the researchers wrote, emphasizing the importance of early recognition, timely testing, and family screening in establishing a diagnosis.

The report, “A Rare Case of Hereditary Angioedema in a 7-Year-Old Girl: Presentation, Diagnosis, and Bridging the Management Gap,” was published in Case Reports in Medicine.

Similar to other types of angioedema, HAE is marked by recurrent episodes of swelling. It is most often caused by genetic mutations that affect C1 esterase inhibitor (C1-INH), a protein that helps regulate the complement system — a group of immune proteins that work together to protect the body — as well as bradykinin production. Bradykinin is a signaling molecule that makes blood vessels more permeable, allowing fluid to move into surrounding tissues.

In HAE type 1, the body does not produce enough C1-INH. As a result, bradykinin can build up, causing fluid to leak from blood vessels into surrounding tissues and triggering swelling attacks that can affect virtually any part of the body.

HAE symptoms often begin during childhood or adolescence, “yet diagnosis is frequently delayed for years,” the researchers wrote. Abdominal attacks can resemble common gastrointestinal conditions, while swelling elsewhere in the body, including the face, may be mistaken for an allergic reaction.

A timely diagnosis, however, is important to guide appropriate treatment and reduce the risk of complications from potentially life-threatening airway swelling. While targeted therapies are available to treat HAE attacks or help prevent them from occurring, access remains limited in many resource-constrained settings, the researchers noted.

In the report, a team of researchers at Mazandaran University of Medical Sciences described the case of a 7-year-old girl with type 1 HAE. They aimed to “highlight the clinical clues to early diagnosis, underscore the pivotal role of confirmatory laboratory evaluation, and discuss the practicalities of acute and long-term management in an environment where first-line targeted therapies are not readily available,” the team wrote.

Recurrent swelling and family history raise suspicion of HAE

The girl was admitted to the hospital after swelling on the left side of her face and upper lip worsened over 24 hours. The episode had begun with bruise-like discoloration around her left eye before progressing to swelling.

In the preceding week, she had developed a runny nose and sore throat, suggesting an upper respiratory infection — a known trigger of HAE attacks. About a week before admission, she also had a temporary episode of swelling in one hand.

A similar episode of hand swelling two months earlier had already raised suspicion of HAE, but because it resolved on its own and access to specialized testing was limited, confirmatory testing was not done.

Her medical history also showed that, at age 3, she had been hospitalized with fever and abdominal swelling that had been attributed to a viral infection.

At the hospital, the facial swelling did not itch and was not accompanied by hives (urticaria), tongue swelling, or breathing difficulties. Doctors also learned that her mother had a history of angioedema. Together with the girl’s recurrent swelling, those clues prompted testing for HAE.

Tests showed markedly reduced C1-INH antigen levels and low levels of the complement protein C4, which is commonly reduced in type 1 HAE. Levels of another complement protein, C1q, were normal. Because C1q is typically reduced in acquired angioedema but not in HAE, the findings supported a diagnosis of type 1 HAE.

Fresh frozen plasma used when targeted therapies unavailable

With targeted HAE therapies unavailable, the girl was treated with fresh frozen plasma (FFP), the liquid component of donor blood that is collected and frozen for transfusion and contains C1-INH. Her swelling eased substantially within 24 hours and had completely resolved by the third day, without breathing complications.

Before discharge, the family received guidance on recognizing attacks, avoiding potential triggers, emergency management, and specialist follow-up. Family screening then revealed that the girl’s mother also had previously undiagnosed type 1 HAE.

The researchers said the case illustrates the difficulty of recognizing HAE in children and “the importance of early recognition, timely complement testing, and family screening for establishing the diagnosis.”

The girl’s treatment success also suggests FFP may provide an alternative for managing acute attacks in resource-limited settings when targeted HAE therapies are unavailable, according to the team.

“Early diagnosis, patient education, trigger avoidance, and appropriate long-term follow-up remain essential to reduce morbidity and prevent potentially life-threatening complications,” the team concluded.