Thrombophilias Flashcards
Acquired
Estrogen therapy, adv age, obeisity, smokeing
AT3 Def
norm neuts activated serine proteases and inhibs coag by binding to thrombin and amp’d by Hep. Lab = no prolonged PTT after Hep dosage.
Protein C Def
Normally prod in liver, vit K dep, degrades 5a and 8a with Prot S cofact. Thrombosis occurs and less than 50 percent available. Increased risk for warfarin skin necrosis.
Protein S def
Active when free (bound to C4b). May decrease with vit K def, warf, liv desease. Increased consumption in acute thrombsis, DIC, MPD, Sickle
Homocysteine
Def of cystathione beta and 5,10methylTHF reductase. Leads to art and venous thrombosis, mental retard, long fingers.
F5 Leiden
Freq DVT, Arg to Guanin on F5 so APC can’t degrade. Diag = coag test
Prothrombin 20210A
Slowed mRNA degrade of circ prothrombin. Assoc with increased number of miscarriages.
AntiPL Syndrome
AID assoc with SLE, RA, Sjo, HIV. Anti-pl Abs to plasma proteins. Induces hypercoag due to endo inj. APAs include anti-cardiolipin, lupus anticoag, antiGp1b.
Clin - repeat spont aborts, stroke, DVT
Lab = False Syphalis pos, Inc PTT without correction