Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency

Park, Eun Sil; Cho, Jae-Young; Seo, Ji‐Hyun; Lim, Jae Young; Youn, Hee‐Shang; Woo, Hyang‐Ok

doi:10.5045/br.2018.53.1.81

Cited by 2 publications

(1 citation statement)

References 12 publications

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“…There have been reports on the pathogenicity of this variant. [5][6][7][8][9] SpliceAI software predicted that the mutation site was harmful, and PhyloP Vertebrates and PhyloP Placetal Mammals software predicted that the mutation site was not conservative.…”

Section: Gene Sequencingmentioning

confidence: 99%

Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report

Lin,

Sun,

2024

Medicine

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Background: Deficiency of natural anticoagulant antithrombin was first reported as a genetic risk factor for venous thromboembolism, antithrombin III (AT III) is encoded by the serpin family C member 1 (SERPINC1) gene, consisting of 432 amino acids, including 3 disulfide bonds and 4 possible glycosylation sites. Studies have shown that hereditary AT deficiency increases the incidence of venous thromboembolism by up to 20 times. Case presentation: The case presented a 27-year-old young man with no acquired risk factors and a sudden onset of right lower extremity venous thrombosis and pulmonary embolism. A heterozygous mutation in gene SERPINC1 of c.1154-14G>A was detected in the patient, which is a deleterious mutation resulting in reduced AT III activity and increased risk of thrombotic events. The patient received anticoagulant therapy for approximately 5 months, and the thrombus gradually dissolved and no recurrent thrombotic events occurred during follow-up. Discussion: AT deficiency is a rare autosomal dominant genetic disease, they are mainly divided into 2 types according to the different effects on the structure or function of the encoded protein. The patient had a mutation in the SERPINC1 gene (c.1154-14G>A). Several cases of this type of mutation have been reported since 1991, and it is classified as AT deficiency type I. Conclusion: Thrombosis in patients with antithrombin deficiency is often unpredictable and can lead to fatal pulmonary embolism. Early genetic testing for hereditary thrombophilia in venous thromboembolism patients without obvious high-risk factors is critical. Long-term anticoagulation treatment is an effective treatment, for this type of type I AT III deficiency combined with pulmonary embolism patients, warfarin is an effective anticoagulant drug.

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Section: Gene Sequencingmentioning

confidence: 99%

Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report

Lin,

Sun,

2024

Medicine

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Pulmonary embolism with abdominal pain as the chief complaint

Han

Gong

2019

Medicine

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Rationale: Pulmonary embolism (PE) is one of the serious cardiopulmonary diseases that can endanger life. Early diagnosis and timely treatment are key factors to reduce its high mortality rate. Abdominal pain is not currently included in the symptoms of PE in textbooks and guidelines. Patient concerns: A 49-year-old man was hospitalized for an exacerbation of right upper quadrant abdominal pain and sudden left upper quadrant pain that lasted for 2 hours. Diagnoses: The patient was initially misdiagnosed as cholecystitis and pneumonia, and later was diagnosed as PE by computed tomography pulmonary angiography (CTPA). Interventions: The patient received low molecular weight heparin for anticoagulant therapy. Outcomes: His abdominal pain disappeared after one week. The patient was later discharged. Lessons: Sometimes abdominal pain may be the only manifestation of PE. However, most clinicians do not think of the possibility of PE in patients with abdominal pain. This might have contributed greatly to the rate of misdiagnosis of PE in the past. We hope to improve the alertness of the diagnosis of PE in clinical practice. In patients with abdominal pain, the possibility of PE should be considered to avoid mis- or under-diagnosis.

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Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency

Cited by 2 publications

References 12 publications

Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report

Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report

Pulmonary embolism with abdominal pain as the chief complaint

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