Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis
BackgroundCongenital hyperinsulinism (CHI) is a rare but significant cause of persistent neonatal hypoglycemia. While Central Venous Catheters (CVCs) are a known major risk factor for thrombosis in neonates, the evidence linking CHI, catheter use, and thrombotic risk remains limited. This study inve...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1611224/full |
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| author | Mohammed Hady Albitar Nida Mariyam Ziad Alhosainy Raghad Alhuthil Marah Nayfeh Maeen Aldamouni Seba Albitar Afaf Alsagheir Afaf Alsagheir |
| author_facet | Mohammed Hady Albitar Nida Mariyam Ziad Alhosainy Raghad Alhuthil Marah Nayfeh Maeen Aldamouni Seba Albitar Afaf Alsagheir Afaf Alsagheir |
| author_sort | Mohammed Hady Albitar |
| collection | DOAJ |
| description | BackgroundCongenital hyperinsulinism (CHI) is a rare but significant cause of persistent neonatal hypoglycemia. While Central Venous Catheters (CVCs) are a known major risk factor for thrombosis in neonates, the evidence linking CHI, catheter use, and thrombotic risk remains limited. This study investigates the prevalence of thrombosis in CHI patients and explores potential contributing factors, such as CVC insertion and infection.MethodsA retrospective cohort study was conducted on 67 patients under 14 years of age who were diagnosed with CHI and treated at King Faisal Specialist Hospital and Research Centre in Riyadh, Saudi Arabia, between 2014 and 2024. Clinical, genetic, and imaging data were analyzed, and associations between thrombosis and risk factors were assessed using univariable analysis.ResultsOf the 67 patients with CHI, 53.7% were female, with a median age at CHI diagnosis of 3 weeks. Genetic analysis revealed ABCC8 mutations as the most frequently identified genetic variant (58.2%). CVCs were used in 61 cases (91.0%), with thrombosis developing in 18.0% of those with CVCs, mostly affecting the vena cava and portal vein. All thrombosis cases were treated with enoxaparin; 63.6% of patients experienced mild, transient complications, including elevated liver enzymes, prolonged partial thromboplastin time (PTT), and thrombocytopenia. A statistically significant association was found between infection and thrombosis (p = 0.001), but no significant correlation was found between specific genetic mutations and thrombosis risk (p > 0.05).ConclusionThese findings underscore the importance of recognizing thrombosis as a potential complication in patients with CHI undergoing CVC placement. Although most cases were successfully managed, early screening and preventive strategies should be considered to minimize thrombotic complications. Future research should focus on optimizing thromboprophylaxis and evaluating additional contributing factors to refine management strategies and improve patient outcomes. |
| format | Article |
| id | doaj-art-48a8901a985f4936834aa1ba23d7bbe0 |
| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-48a8901a985f4936834aa1ba23d7bbe02025-08-20T03:50:06ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-07-011610.3389/fendo.2025.16112241611224Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysisMohammed Hady Albitar0Nida Mariyam1Ziad Alhosainy2Raghad Alhuthil3Marah Nayfeh4Maeen Aldamouni5Seba Albitar6Afaf Alsagheir7Afaf Alsagheir8College of Medicine, Alfaisal University, Riyadh, Saudi ArabiaCollege of Medicine, Alfaisal University, Riyadh, Saudi ArabiaCollege of Medicine, Alfaisal University, Riyadh, Saudi ArabiaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaCollege of Medicine, Alfaisal University, Riyadh, Saudi ArabiaCollege of Medicine, Alfaisal University, Riyadh, Saudi ArabiaCollege of Medicine, Alfaisal University, Riyadh, Saudi ArabiaCollege of Medicine, Alfaisal University, Riyadh, Saudi ArabiaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaBackgroundCongenital hyperinsulinism (CHI) is a rare but significant cause of persistent neonatal hypoglycemia. While Central Venous Catheters (CVCs) are a known major risk factor for thrombosis in neonates, the evidence linking CHI, catheter use, and thrombotic risk remains limited. This study investigates the prevalence of thrombosis in CHI patients and explores potential contributing factors, such as CVC insertion and infection.MethodsA retrospective cohort study was conducted on 67 patients under 14 years of age who were diagnosed with CHI and treated at King Faisal Specialist Hospital and Research Centre in Riyadh, Saudi Arabia, between 2014 and 2024. Clinical, genetic, and imaging data were analyzed, and associations between thrombosis and risk factors were assessed using univariable analysis.ResultsOf the 67 patients with CHI, 53.7% were female, with a median age at CHI diagnosis of 3 weeks. Genetic analysis revealed ABCC8 mutations as the most frequently identified genetic variant (58.2%). CVCs were used in 61 cases (91.0%), with thrombosis developing in 18.0% of those with CVCs, mostly affecting the vena cava and portal vein. All thrombosis cases were treated with enoxaparin; 63.6% of patients experienced mild, transient complications, including elevated liver enzymes, prolonged partial thromboplastin time (PTT), and thrombocytopenia. A statistically significant association was found between infection and thrombosis (p = 0.001), but no significant correlation was found between specific genetic mutations and thrombosis risk (p > 0.05).ConclusionThese findings underscore the importance of recognizing thrombosis as a potential complication in patients with CHI undergoing CVC placement. Although most cases were successfully managed, early screening and preventive strategies should be considered to minimize thrombotic complications. Future research should focus on optimizing thromboprophylaxis and evaluating additional contributing factors to refine management strategies and improve patient outcomes.https://www.frontiersin.org/articles/10.3389/fendo.2025.1611224/fullcongenital hyperinsulinism (CHI)thrombosiscentral venous catheter (CVC)ABCC8 geneUSH1CSaudi Arabia |
| spellingShingle | Mohammed Hady Albitar Nida Mariyam Ziad Alhosainy Raghad Alhuthil Marah Nayfeh Maeen Aldamouni Seba Albitar Afaf Alsagheir Afaf Alsagheir Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis Frontiers in Endocrinology congenital hyperinsulinism (CHI) thrombosis central venous catheter (CVC) ABCC8 gene USH1C Saudi Arabia |
| title | Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis |
| title_full | Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis |
| title_fullStr | Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis |
| title_full_unstemmed | Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis |
| title_short | Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis |
| title_sort | prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism a retrospective analysis |
| topic | congenital hyperinsulinism (CHI) thrombosis central venous catheter (CVC) ABCC8 gene USH1C Saudi Arabia |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1611224/full |
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