Early plasma therapy helps woman with TTP deliver healthy baby
Case report: Patient's three previous pregnancies resulted in loss of fetus
A 36-year-old woman in China with congenital thrombotic thrombocytopenic purpura (TTP) successfully delivered a healthy baby after preventive plasma therapy was started early in pregnancy, according to a new case report.
The birth followed three previous pregnancy losses — two that occurred before the disease was recognized and were mistaken for pregnancy-related disorders, and one after a late diagnosis, when treatment began too late to save the baby.
“This case highlights that pregnancy can act as the only clinical trigger in certain women with [congenital TTP],” researchers wrote. “Timely identification, early differential diagnosis from [other pregnancy-related] complications, and active management are crucial for improving the pregnancy outcome of [congenital TTP] patients.”
The case, “Pregnancy-Triggered Hereditary Thrombotic Thrombocytopenic Purpura: A Case Report,” was published in the International Journal of Women’s Health.
Congenital TTP caused by mutations in key gene
Congenital TTP is caused by mutations in the ADAMTS13 gene that prevent the body from producing enough of a working enzyme of the same name that keeps platelets — the small cell fragments that help blood clot — from forming clots when they aren’t needed.
This results in clots forming in blood vessels, which reduces blood flow and causes damage to organs. As this happens, platelets are used up and red blood cells are destroyed as they pass through narrowed blood vessels, leading to the hallmark signs of TTP, low platelet counts (thrombocytopenia) and hemolytic anemia.
Because pregnancy naturally increases clotting activity to prepare the body for blood loss during delivery, it can trigger flare-ups in women with the condition. Early diagnosis and treatment are essential to prevent serious complications for both mother and baby.
“If the best treatment opportunity is missed, it will lead to an extremely high maternal and infant mortality rate,” the researchers wrote.
However, early diagnosis can be difficult because the condition closely resembles other pregnancy-related disorders.
Early plasma therapy critical in pregnant TTP patients
The woman described in the report had a long and difficult reproductive history. She reported severe thrombocytopenia and anemia around the 20th week of gestation in her first two pregnancies, both of which ended in loss of the fetus. At the time, doctors believed she had a pregnancy-related complication, called HELLP syndrome, that’s marked by liver problems, hemolysis, and low platelet counts.
The emotional and physical strain from those pregnancies led to the breakdown of her first marriage. She later remarried and became pregnant again about two years later.
At nearly 20 weeks into her third pregnancy, thrombocytopenia and anemia returned, accompanied by headaches, blurred vision, and brief loss of consciousness. She was transferred to a hospital, where an assessment showed her ADAMTS13 activity was severely reduced and a genetic test revealed two different mutations in the ADAMTS13 gene — confirming a diagnosis of congenital TTP.
She underwent three days of continuous plasma infusions, a procedure that separates plasma (the liquid part of the blood) from blood cells, which are then mixed with a liquid to replace the plasma and returned to the body. The woman’s platelet counts improved, but later ultrasounds showed the growth of the fetus was slow.
Scans further revealed reduced umbilical blood flow, indicating poor oxygen and nutrient delivery. Despite treatment, the baby died at 26 weeks of gestation, and labor was induced.
Obstetricians and hematologists should maintain a high index of suspicion for [congenital TTP] in pregnant women presenting with unexplained thrombocytopenia and hemolytic anemia.
When she became pregnant for the fourth time, doctors carefully planned treatment from the start. In the early weeks of her pregnancy, she received daily injections of low-molecular-weight heparin along with aspirin to help prevent blood clots.
Around 12 weeks of gestation, when her platelet count began to fall, doctors started the first preventive plasma infusion. Treatment with heparin was stopped, but she continued taking aspirin each day until delivery.
Her platelet levels were monitored regularly, and infusions were repeated whenever her counts dropped — about every two to three weeks at first, and more often later in pregnancy — to keep platelet levels stable throughout pregnancy.
She remained healthy throughout the pregnancy, with no major complications. At 37 weeks, she delivered a healthy baby by planned cesarean section. Both mother and child recovered well.
“Obstetricians and hematologists should maintain a high index of suspicion for [congenital TTP] in pregnant women presenting with unexplained thrombocytopenia and hemolytic anemia,” the researchers wrote. “During pregnancy, once the diagnosis is confirmed, plasma should be infused as early as possible to supplement the active ADAMTS13. Compared with the treatment after an acute attack, [preventive] plasma infusion may bring better maternal and fetal outcomes.”
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