Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report. Issue 19 (May 2018)

• Record Type: Journal Article
• Authors: Huang, Xiaojie; Xu, Fangfang; Assa, Carmel Rebecca; Shen, Laigen; Chen, Bing; Liu, Zhenjie
• Other Names: NA. section editor.
• Is Part Of: Medicine. Volume 97:Issue 19(2018)
• Publication Date: 2018-05
• Subjects: deep venous thrombosis -- deficiency -- protein S -- pulmonary embolism; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000010714
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: Protein S (PS) deficiency that can be inherited or acquired is an independent risk factor for venous thromboembolism (VTE). Patient concerns: In this report, we present a case of recurrent pulmonary embolism (PE) and deep venous thrombosis (DVT) due to PS deficiency. Diagnoses: A 32-year-old male patient with significant decrease in PS activity was detected by laboratory tests. Genetic examination of the PROS1 gene showed a transition of G to T in exon 14 (c.1792 G>T, p.E598X), which was a paternal inherited heterozygous G1792T substitution in the laminin G-type repeat domain, generating a premature stop codon at Glu598. Interventions: We considered that the inherited PS deficiency due to a PROS1 gene mutation may associate with recurrent VTE. The patient was suggested to have an extended anticoagulant therapy to avoid a severe VTE event. Outcomes: The patient was discharged home with continued oral anticoagulants and was still seen in clinic for follow-up. Lessons: It is necessary for the young patient with recurrent idiopathic thrombosis to perform an inherited PS deficiency test and receive anticoagulant therapy for an extended period.