Arterial thrombosis resulting in amputation in a child with poorly controlled type 1 diabetes and heterozygous Factor V Leiden mutation.
Children with venous thromboses have greater than 50% likelihood of carrying a genetic thrombophilic defect, and two-thirds of such defects will be a mutation in the factor V gene referred to as Factor V Leiden. Poorly controlled type 1 diabetes mellitus (T1DM) increases the risk for thrombosis. We report a massive arterial thrombosis resulting in unilateral below-the-knee amputation in a 12-yr-old white girl with a heterozygous Factor V Leiden mutation and a 2-yr history of poorly controlled T1DM. This report emphasizes the need to test for thrombophilic defects in children with thrombosis or with a family history of thrombosis. Good metabolic control is especially important in children with T1DM and known thrombophilic defects.
Haller
Michael J
MJ
Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida, Gainesville, FL, USA. hallemj@peds.ufl.edu
Valladares
Angelina
A
Rosenbloom
Arlan L
AL
D000671:Amputation, Surgical; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005263:Femoral Artery / Q000473:pathology; D006801:Humans; D017354:Point Mutation; D011150:Popliteal Artery / Q000473:pathology; D013927:Thrombosis / Q000209:etiology* / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V