Evidence map›Paper›PMID 39331315›Full record

ArticleForensic science, medicine, and pathology2025

Hereditary thrombophilia as a possible risk factor for severe disease in COVID-19: a case series.

Jonathan Tse, Julita Gongolli, Joseph A Prahlow

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Article in Forensic science, medicine, and pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Jonathan TseWestern Michigan University Homer Stryker MD School of Medicine, 300 Portage St. Kalamazoo, Kalamazoo, MI, 49007, USA. Jonathan.tse@wmed.edu.ORCID 0009-0006-9384-4131
Julita GongolliWestern Michigan University Homer Stryker MD School of Medicine, 300 Portage St. Kalamazoo, Kalamazoo, MI, 49007, USA.
Joseph A PrahlowDepartment of Pathology, St. Louis University School of Medicine, City of St. Louis, MO, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe risk factors that modulate one's susceptibility for severe COVID-19 have been well documented. Despite this, hypercoagulability remains an often overlooked risk factor for severe disease for COVID-19. Because COVID-19 infection is a risk factor for hypercoagulability, a reasonable presumption/hypothesis is that patients with hereditary thrombophilia would be at a higher risk of thrombotic complications associated with COVID-19 infection.

methodsThis case report details two cases where previously unknown hereditary thrombophilias likely contributed to the mortality of COVID-19 patients.

resultsThe first COVID-19 patient's cause of death was pulmonary thromboemboli from deep vein thrombosis due to heterozygous MTHFR C667T and heterozygous PAI-1 4G/5G mutations. The second COVID-19 patient's cause of death was an acute myocardial infarct due to a coronary artery thrombosis in the setting of heterozygous MTHFR A1298C and homozygous PAI-1 4G/5G mutations. In each case, COVID-19 infection was also considered contributory to death.

conclusionThe occurrence of these fatal thrombotic events in COVID-19 patients with hereditary thrombophilias raises questions as to whether this combination of thrombotic risk factors for hypercoagulability may have placed patients at a significant enough risk to experience these fatal thrombotic complications. Thus, while not sufficient alone to prove that SARS-CoV-2 patients with hereditary thrombophilias are at increased risk for thrombotic complications, these two cases indicate that further investigation is warranted into elucidating the relationship between thrombotic risk factors as it may identify an additional high-risk medical condition for COVID-19 and have important diagnostic and therapeutic ramifications.

Indexed as

COVID-19Pulmonary EmbolismThrombophiliaVenous ThrombosisFatal OutcomeHumansMethylenetetrahydrofolate Reductase (NADPH2)MutationMyocardial InfarctionPlasminogen Activator Inhibitor 1Risk FactorsSARS-CoV-2Methylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humanPlasminogen Activator Inhibitor 1SERPINE1 protein, humanCOVID-19Forensic pathologyHereditary thrombophiliaMTHFRPAI-1

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.