ArticleAmerican journal of medical genetics. Part A2017
Characterization of thrombosis in patients with Proteus syndrome.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- Renal vein thrombosis as a reversible vascular renal complication of CLOVES syndrome: a case report.CEN case reports · 2026Article
- Molecular substratification of endometrial carcinomas with no special molecular profile (NSMP) by using a limited NGS custom panel may facilitate effective patient selection for the PIK3CA-targeted therapy.Virchows Archiv : an international journal of pathology · 2025Article
- Anticoagulation and vascular anomalies.Research and practice in thrombosis and haemostasis · 2024Article
- Human vascular organoids with a mosaicbioRxiv : the preprint server for biology · 2024Article
- Whole Exome Sequencing in Vaccine-Induced Thrombotic Thrombocytopenia (VITT).BioMed research international · 2024Article
- Approach to clinically significant vascular anomalies in children.Singapore medical journal · 2023Review
- Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.Annals of the American Thoracic Society · 2022Article
- A Rare Case of an Asymmetric Overgrowth Syndrome in a Kenyan African Child: A Case Report and Review of Literature.Cureus · 2022Article
- Precapillary pulmonary arterial hypertension in a patient with Proteus syndrome.Pulmonary circulation · 2022Article
- Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.American journal of medical genetics. Part A · 2020Article
- Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).Cold Spring Harbor molecular case studies · 2020Article
- A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Article
- Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Article
- Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.American journal of human genetics · 2019Article
- Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.American journal of medical genetics. Part A · 2018Article
- Inferring gene and protein interactions using PubMed citations and consensus Bayesian networks.PloS one · 2017Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism. Of the remaining 47 living patients, six had thromboembolic events that all occurred postoperatively and in an affected limb. Eleven of 21 patients had an abnormal hypercoagulable panel including Factor V Leiden heterozygotes, antithrombin III deficiency, positive lupus anticoagulant, or Protein C or S deficiencies. We observed that eight of 17 patients had an abnormal D-dimer level >0.5 mcg/dl, but deep venous thromboses occurred in only four of those with D-dimer >1.0 mcg/dl. We conclude that the predisposition to thrombosis is likely to be multifaceted with risk factors including vascular malformations, immobility, surgery, additional prothrombotic factors, and possible pathophysiologic effects of the somatic AKT1 mutation on platelet function or the vascular endothelium. The D-dimer test is useful as a screen for thromboembolism, although the screening threshold may need to be adjusted for patients with this disorder. We propose developing a registry to collect D-dimer and outcome data to facilitate adjustment of the D-dimer threshold for Proteus syndrome and related disorders, including PIK3CA-Related Overgrowth Spectrum.
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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 OpenQuestion graph.