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Arterial thrombosis resulting in amputation in a child with poorly controlled type 1 diabetes and heterozygous Factor

Michael J Haller1, Angelina Valladares, Arlan L Rosenbloom

  • 1Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida, Gainesville, FL, USA. hallemj@peds.ufl.edu

Pediatric Diabetes
|August 17, 2006
PubMed

Insights

Children with Factor V Leiden mutation and poorly controlled type 1 diabetes mellitus face high thrombosis risk. Genetic testing for thrombophilia is crucial in pediatric thrombosis cases.

Area of Science:

  • Pediatric Thrombosis and Genetics
  • Endocrinology and Metabolic Disorders

Background:

  • Genetic thrombophilic defects, particularly Factor V Leiden mutation, are prevalent in children with venous thromboses.
  • Poorly controlled type 1 diabetes mellitus (T1DM) is an established risk factor for thrombotic events.

Observation:

  • A case of a 12-year-old female with a heterozygous Factor V Leiden mutation and a two-year history of poorly controlled T1DM.
  • The patient experienced a massive arterial thrombosis necessitating a below-the-knee amputation.

Findings:

  • This case highlights the severe thrombotic risk associated with the combined presence of Factor V Leiden and poorly controlled T1DM in a pediatric patient.
  • The high incidence of thrombophilic defects in pediatric thrombosis underscores the importance of genetic screening.

Implications:

  • Routine screening for thrombophilic defects is recommended for children presenting with thrombosis or a family history of thrombosis.
  • Maintaining optimal metabolic control in children with T1DM, especially those with identified thrombophilic defects, is critical for preventing thrombotic complications.

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