Pathogenic variant in SERPING1 gene causing autosomal dominant hereditary angioedema in early childhood.
BMJ Case Rep
; 16(11)2023 Nov 03.
Article
in En
| MEDLINE
| ID: mdl-37923334
A female in early childhood presented with 6 months of transient swelling of multiple areas of her body, often, but not always, associated with minor trauma. Labs drawn were significant for low C4, low CH50, low C1 esterase inhibitor (C1-INH) antigen and low C1-INH function, which is concerning for hereditary angioedema (HAE) with abnormal C1-INH. Genetic testing through the Invitae Hereditary Angioedema Panel revealed a variant in the SERPING1 gene, c.686-7C>G (Intronic), which was classified as a variant of unknown significance, but is likely pathogenic given patient's clinical presentation and recent functional proof of pathogenicity. HAE should be recognised in paediatric patients even without family history. Recognising the symptoms of HAE and confirming diagnosis in early childhood has become more important recently as the first prophylactic therapy, lanadelumab, was approved in February 2023 for long-term prophylaxis in early childhood, which can significantly improve morbidity and quality of life.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Angioedemas, Hereditary
Limits:
Child
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Child, preschool
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Female
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Humans
Language:
En
Journal:
BMJ Case Rep
Year:
2023
Document type:
Article
Affiliation country:
Country of publication: