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Re: Question for perinatologistsFrom: R L Meisel (rmeisel@mac.com)Tue Jul 29 19:16:00 2003
>I have a patient in my indigent clinic who just had her second >second-trimester loss. (First one last year at 16 weeks, this one last >week at 18 weeks) Her public aid card runs out at the end of August, and >of course she won't be able to get another one until she is actually >pregnant the next time. Our perinatologist can't get her in before >September, so I asked what blood workup we could do while she still has >a card. He rattled off a list of tests and then had to run to an >emergency. The one test I can't find in the lab order book is a >"prothrombin 20120". I did have him repeat that one twice, because I >had never heard of it. Is that the actual correct name of it, or does >it go by something else, and what exactly does it measure? > > Thanks. > >Anna Meenan, MD (family practice--perinatology and fertility stuff is >out of my league) Anna, That's a 20210 mutation. I usually get this in a profile called "Thrombophilic profie, DNA" That includes mutation testing for Leiden mutation, 20210, and MTHFR mutations. The following blurb is from the lab report. For more info see Lockwood's review in the green journal last fall. A word of caution is in order with this testing, 1 Some payers won't pay for it if it's screening (i.e. no thromboembolic event) 2 There is no consensus on how to treat/monitor the findings. A point mutation (G20210A) in the factor II (prothrombin) gene is a common cause of inherited thrombosis and accounts for up to 20% of inherited thrombophilia. The incidence of this mutation in the Caucasian population is 1-2% and in African Americans is 0.1%. Heterozygous carriers of this mutation have prothrombin levels that are 30% higher than normal, associated with a 3-fold increased risk for venous thrombosis. Homozygotes also have an increased risk for thrombosis, but the risk cannot be definitively quantified at this time due to limited data. The Factor II/prothrombin mutation has been reported in patients with idiopathic portal vein thrombosis, in patients with cerebral vein thrombosis, in patients using oral contraceptives, and in pregnant patients with placental abruptions and fetal growth restriction. Another common cause of thrombosis is the Factor V Leiden mutation (R506Q). Up to 40% of the Factor II/prothrombin mutation carriers also carry the Factor V Leiden mutation. -- Best Wishes, R L Meisel, MD
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