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Case Reports: Rare disease
Hereditary angio-oedema with C1 inhibitor deficiency type I, an unusual stroke mimic
  1. Javier Molina-Gil1,
  2. Julián Azofra2 and
  3. Lucía González-Fernández1
  1. 1Neurology, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain
  2. 2Allergology and Immunology, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain
  1. Correspondence to Dr Javier Molina-Gil; javimol1993{at}hotmail.com

Abstract

Hereditary angio-oedema with C1 inhibitor deficiency (C1-INH-HAE) type I is a rare immune disorder characterised by a deficit of functional C1 esterase inhibitor (C1-INH). Recurrent C1-INH-HAE attacks typically present as generalised skin swelling and abdominal pain. Neurological involvement is very unusual, with a few reports of cephalea and recurrent dizziness. We describe a woman in her 30s diagnosed with C1-INH-HAE type I who was referred to the emergency department suffering from left hemisensory syndrome, with the initial suspicion of an ischaemic stroke. A few hours after hospital admission, she presented an acute attack of facial swelling and abdominal pain, receiving intravenous C1-INH concentrate with complete resolution of all symptoms, including neurological ones. A complete aetiological study ruled out a stroke. We pointed out that C1-INH-HAE attack can be an unusual stroke mimic that responds favourably to replacement therapy.

  • Immunology
  • Stroke
  • Neurology

https://doi.org/10.1136/bcr-2022-249040

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    Footnotes

    • Contributors Category 1 (A) Conception and design: JM-G, (B) Acquisition of data: JM-G and LG-F, (C) Analysis and interpretation of data: JM-G, LG-F and JA. Category 2 (A) Drafting the manuscript: JM-G, (B) Revising it for intellectual content: LG-F and JA. Category 3; final approval of the completed manuscript: JM-G, JA and LG-F. Category 4; agreement to be accountable for all aspects of the work: JM-G, JA and LG-F.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.