How does congenital dysfibrinogenemia present in women?¶
Answer: In women, congenital dysfibrinogenemia presents mainly as heavy menstrual bleeding and obstetric complications — postpartum hemorrhage (PPH) and miscarriage — at rates well above the general population.
From a Prospective Rare Bleeding Disorders Database cohort of 59 women with congenital fibrinogen disorders (32 had 70 pregnancies):
- Heavy menstrual bleeding — 36% in dysfibrinogenemia and 27% in hypofibrinogenemia, vs 75% in afibrinogenemia.
- Postpartum hemorrhage — 36% overall, far above the general-population 1–10%; similar in dysfibrinogenemia (35%) and hypofibrinogenemia (36%).
- Miscarriage — 23% overall, above the general-population 10–20%; dysfibrinogenemia 37%, hypofibrinogenemia 31%. Occurred even in 50% of otherwise-asymptomatic dysfibrinogenemic women.
- Bleeding during pregnancy was uncommon — 2/70 pregnancies (4%), both dysfibrinogenemic.
- No difference in miscarriage or PPH between dysfibrinogenemic women with vs without hotspot variants (P = .94).
A case report of one woman across successive pregnancies underscores that presentation is heterogeneous and prior obstetric history and genotype do not reliably predict future complications — complications occurred despite normal ROTEM (FIBTEM). Management is expert-opinion–based and individualized.