Familial giant cell arteritis

The genetic basis of giant cell arteritis is not fully understood but may play a role in treatment resistance and increased risk of ischaemic complications, including permanent vision loss. We present two of five cases of familial giant cell arteritis (2.5%) among 198 temporal artery biopsy-positive patients seen at a single institution over a 20-year period between 2003 and 2023 to highlight the importance of further genetic studies in this group of patients to improve timely diagnosis, management and detection of patients at greatest risk for ischaemic sequelae.

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Publication Details

Journal
BMJ Case Reports
Published
2025-05-01
DOI
https://doi.org/10.1136/bcr-2025-265982
Primary Topic
Vasculitis and related conditions
Type
article
Field-Weighted Citation Impact
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article

Familial giant cell arteritis

Yi Ling Dai, Raul E. Ruiz‐Lozano, Ali Khodor, Susan Tucker
BMJ Case Reports
Vasculitis and related conditions
article

Familial giant cell arteritis

Yi Ling Dai, Raul E. Ruiz‐Lozano, Ali Khodor, Susan Tucker
article en

Abstract

The genetic basis of giant cell arteritis is not fully understood but may play a role in treatment resistance and increased risk of ischaemic complications, including permanent vision loss. We present two of five cases of familial giant cell arteritis (2.5%) among 198 temporal artery biopsy-positive patients seen at a single institution over a 20-year period between 2003 and 2023 to highlight the importance of further genetic studies in this group of patients to improve timely diagnosis, management and detection of patients at greatest risk for ischaemic sequelae.

BMJ Case ReportsVol. 18(5)
University of Miami Health System (US), Lahey Medical Center (US)
Good health and well-being
Openalex Percentile: Top 80%
Vasculitis and related conditions
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Familial giant cell arteritis — Yi Ling Dai, Raul E. Ruiz‐Lozano, et al. · BMJ Case Reports (2025) | TGRS Research Map | TGRS