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Case Reports
. 2022 Apr 19:9:873600.
doi: 10.3389/fmed.2022.873600. eCollection 2022.

Case Report and Literature Review: Behçet's Disease With a Novel TFPI Gene Mutation

Jiewen Ma  1 , Wengang Sun  1 , Liang Tang  1 , Di Yang  1
Affiliations
Case Reports

Case Report and Literature Review: Behçet's Disease With a Novel TFPI Gene Mutation

Jiewen Ma et al. Front Med (Lausanne). .

Abstract

We report a case of Behçet's disease (BD) with a newly identified tissue factor pathway inhibitor (TFPI) gene mutation. The patient suffered from recurrent deep vein thrombosis and dural sinus thrombosis which could not be relieved by constant anticoagulation therapy. Slight relapsing oral lesion was the initial manifestation of BD but was neglected. Genital ulcers and ocular symptoms were manifest 8-month later than vascular involvement. The patient was diagnosed with BD at last and a novel mutation in TFPI was identified simultaneously. After administration with azathioprine and dexamethasone, the clinical symptoms were quickly gone and no relapse was found during 7-month follow-up.

Keywords: Behçet’s disease; TFPI; case report; mutation; thrombosis.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
MRI scan indicated dural sinus thrombosis.
FIGURE 2
FIGURE 2
Erythema at injection sites when the patient was admitted (A). Ulcerations on the scrotum were manifest 2-weeks later (B).
FIGURE 3
FIGURE 3
Sequencing analysis of the patient revealed a heterozygous mutation in TFPI.
See this image and copyright information in PMC

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