Lemierre's syndrome and genetic polymorphisms: a case report.
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
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.
Constantin
Jean-Michel
JM
Adult Intensive Care Unit, Department of anesthesiology and intensive care, University Hospital of Clermont-Ferrand, Hotel-Dieu Hospital, F-63058 Clermont-Ferrand, France. jmconstantin@chu-clermontferrand.fr
Mira
Jean-Paul
JP
Guerin
Renaud
R
Cayot-Constantin
Sophie
S
Lesens
Olivier
O
Gourdon
Florence
F
Romaszko
Jean-Pierre
JP
Linval
Philippe
P
Laurichesse
Henri
H
Bazin
Jean-Etienne
JE
D000293:Adolescent; D005260:Female; D005674:Fusobacterium Infections / Q000188:drug therapy / Q000235:genetics*; D005675:Fusobacterium necrophorum; D006801:Humans; D010612:Pharyngitis / Q000382:microbiology; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012128:Respiratory Distress Syndrome / Q000382:microbiology; D012772:Shock, Septic / Q000382:microbiology; D013577:Syndrome; D013924:Thrombophlebitis / Q000235:genetics* / Q000382:microbiology; D013925:Thromboplastin / Q000235:genetics; D051198:Toll-Like Receptor 5 / Q000235:genetics
D017395:Plasminogen Activator Inhibitor 1; D051198:Toll-Like Receptor 5; D013925:Thromboplastin