Lemierre's syndrome and genetic polymorphisms: a case report
1 Adult Intensive Care Unit, Department of anesthesiology and intensive care, University Hospital of Clermont-Ferrand, Hotel-Dieu Hospital, F-63058 Clermont-Ferrand, France
2 Medical Intensive Care Unit and Cochin Institute INSERM U567, Cochin Saint-Vincent de Paul University Hospital, Paris, France
3 Infectious Diseases and Tropical Medicine Department, University Hospital of Clermont-Ferrand, Hotel-Dieu Hospital, F-63058 Clermont-Ferrand, France
4 Laboratory of Bacteriology, University Hospital of Clermont-Ferrand, F-63000 Clermont-Ferrand, France
5 Intensive Care Unit, Moulins-Yzeure Hospital, Moulins, France
BMC Infectious Diseases 2006, 6:115 doi:10.1186/1471-2334-6-115Published: 17 July 2006
Lemierre's syndrome presents a classic clinical picture, the pathophysiology of which remains obscure. Attempts have been made to trace genetic predispositions that modify the host detection of pathogen or the resultant systemic reaction.
A 17-year old female, with no previous medical history, was admitted to the intensive care unit for septic shock, acute respiratory distress syndrome and Lemierre's syndrome. Her DNA was assayed for single nucleotide polymorphisms previously incriminated in the detection of the pathogen, the inflammatory response and the coagulation cascade. We observed functional variations in her Toll like 5 receptor (TLR 5) gene and two coagulation variations (Tissue Factor (TF) 603 and Plasminogen-Activator-Inhibitor-1 (PAI-1) 4G-4G homozygosity) associated with thrombotic events.
The innate immune response and the prothrombogenic mutations could explain, at least in part, the symptoms of Lemierre's syndrome. Genomic study of several patients with Lemierre's syndrome may reveal its pathophysiology.