Prevalence of thrombophilia and catheter-related thrombosis in cystic fibrosis

Pediatr Pulmonol. 2005 Feb;39(2):156-61. doi: 10.1002/ppul.20158.

Abstract

Venous thrombosis in children and young adults is frequently associated with predisposing conditions and with an indwelling catheter or totally implantable venous access device (TIVAD). These systems are commonly used for the delivery of antibiotic therapy in patients with cystic fibrosis (CF). We reviewed our CF center's history of catheter-related events over 13 years and prospectively investigated the presence of risk factors for thrombosis in 66 children and adults with CF (age, 3-38 years; 32 females). Five thrombotic events had occurred in 4 patients, 2 of whom carried the factor V Leiden mutation. Five asymptomatic patients were diagnosed with heterozygous mutations of the factor V or prothrombin gene. Functional activity of protein C was decreased in 13 subjects, with a correlation to impaired liver function. Protein S activity was abnormal in 20 patients and was related to CF genotype. Anti-phospholipid antibodies (APA) were present in 6 asymptomatic patients. A reinvestigation after 3 years confirmed protein S deficiency in 12 of 14 patients, while most abnormalities for protein C or APA were inconsistent. In conclusion, a thrombophilic state was detected in 53% of patients, and 2 out of 4 subjects with TIVAD-related thrombosis carried a genetic defect. It may thus be helpful to include a hemostatic evaluation in the clinical decision process for or against TIVAD insertion in eligible CF patients.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Anti-Bacterial Agents*
  • Antibodies, Antiphospholipid / immunology
  • Catheters, Indwelling / adverse effects*
  • Child
  • Cystic Fibrosis / drug therapy*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / immunology
  • Drug Therapy, Combination / administration & dosage*
  • Enzyme-Linked Immunosorbent Assay
  • Factor V / genetics
  • Female
  • Follow-Up Studies
  • Genotype
  • Humans
  • Infusions, Intravenous
  • Male
  • Middle Aged
  • Mutation / genetics
  • Prevalence
  • Prospective Studies
  • Protein C Deficiency / blood
  • Protein C Deficiency / complications
  • Protein S Deficiency / blood
  • Protein S Deficiency / complications
  • Prothrombin / genetics
  • Retrospective Studies
  • Subclavian Vein
  • Thrombophilia / epidemiology*
  • Thrombophilia / genetics
  • Ultrasonography, Doppler
  • Venous Thrombosis / diagnostic imaging
  • Venous Thrombosis / epidemiology*
  • Venous Thrombosis / etiology

Substances

  • Anti-Bacterial Agents
  • Antibodies, Antiphospholipid
  • factor V Leiden
  • Factor V
  • Prothrombin