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1 FACTOR V LEIDEN HETEROZYGOSITY, AN ETIOLOGY FOR IDIOPATHIC INTRACRANIAL HYPERTENSION

SS Ali, A Khan, M Umar, M Maddipati, P Wang, CJ Glueck Cincinnati OH. Jewish Hospital of Cincinnati.

Background: In adults with idiopathic intracranial hypertension (IIH), there are no uniformly agreed-upon pathoetiologies, but familial and acquired thrombophilia-hypofibrinolysis as well as polycystic ovary syndrome (PCOS) with insulin resistance have been implicated as etiologies. IIH is rare in childhood, compared to adulthood, and very little is known about IIH etiologies in childhood.

Specific Aim: In 30 children <= age 21 at diagnosis, our hypothesis was that IIH might be associated with familial thrombophilia-hypofibrinolysis, and with PCOS-insulin resistance.

Methods: In a retrospective, case-control study, 30 Caucasian children, 19 females (63%) and 11 males (37%), mean ages 15.2 +/− 3.8, median 16 years, had PCR measures of the Factor V Leiden, Prothrombin G20210A, MTHFR C677T/A1298C, and PAI-1 4G4G mutations, as well as proteins C, S, antithrombin III, homocysteine, plasminogen activator inhibitor activity, Lp(a), Factors VIII, XI, ACLA IgG and IgM, and the lupus anticoagulant. Fasting plasma insulin was also measured and PCOS was diagnosed by the Consensus Conference criteria. The control group included 164 healthy Caucasian children who had come to the Cincinnati Children's Medical Center for same day tonsillectomies, including 72 females (44%) and 92 males (56%) with mean +/−SD age age 7.4 +/− 5.1 years and median 7 years.

Results: Of the 30 children with IIH, 4 (13%) were heterozygous for the V Leiden mutation vs 7 (4%) of the controls, p = 0.05. There were no other significant case-control differences in coagulation measures. Of the 30 patients, 10 (33%) had a fasting serum insulin greater than the laboratory 95th percentile (17 uU/ml), 6 times greater than the expected 5%, chi square = 50.7, p < 0.0001. Of the 19 female patients, 14 (74%) were diagnosed with PCOS, of whom 11 were …

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