Plasma treatment helps woman with TTP deliver healthy baby

An Iranian woman with congenital thrombotic thrombocytopenic purpura (TTP) successfully delivered a healthy baby boy after receiving regular infusions of fresh frozen plasma and coordinated care from hematology (blood) and obstetric (pregnancy) specialists, who closely monitored her throughout the pregnancy, according to a case report.

“[Congenital TTP] poses significant risks during pregnancy but can be safely managed with consistent plasma replacement and vigilant monitoring,” researchers wrote. “Multidisciplinary coordination between hematology and obstetrics is essential to optimize maternal and neonatal outcomes.”

The woman’s case was described in “Successful Full-Term Pregnancy in Clinically Diagnosed Congenital Thrombotic Thrombocytopenic Purpura: A Case Report and Literature Review,” which was published in eJHaem.

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In congenital TTP, also known as hereditary TTP, mutations in both copies of the gene that encodes ADAMTS13 result in an enzyme that is not functional or is missing. Normally, ADAMTS13 prevents blood clots from forming when they are not needed. Without it, blood clots can reduce flow through small vessels, causing symptoms.

During pregnancy, ADAMTS13 becomes naturally less active, making women with congenital TTP more likely to experience a sudden return or worsening of symptoms. Without appropriate treatment — often regular infusions of fresh frozen plasma to replace the missing enzyme — there is an increased risk of miscarriage and serious complications for both the mother and her baby.

In their report, researchers in Iran described the case of a 32-year-old Iranian woman with congenital TTP that began in early childhood. At 3 years of age, she developed anemia (a low number of red blood cells) and thrombocytopenia (a low number of platelets, cell fragments key for blood clotting). Genetic testing was not available, but her ADAMTS13 was largely missing, and she had no antibodies against the enzyme, supporting the diagnosis.

She was treated with preventive fresh frozen plasma, receiving two units each month. Fresh frozen plasma, the clear part of blood, contains the missing ADAMTS13 enzyme. This treatment kept her disease under control for more than 20 years without any relapses, which are periods when symptoms suddenly worsen.

At 25 years of age, she developed three episodes of TTP within one year. To better control the disease, her treatment was increased to two units of fresh frozen plasma every two weeks. This more frequent treatment “successfully stabilized her disease course,” the researchers wrote, preventing further relapses.

When she was 29 years old, she became pregnant for the first time. About six weeks later, she had a relapse that required plasmapheresis, also known as plasma exchange, a procedure that removes harmful substances from the blood and replaces the plasma. Although symptoms eased, the pregnancy ended in miscarriage. A second pregnancy also ended in miscarriage at 10 weeks.

“In resource-limited settings, longitudinal clinical monitoring becomes particularly important. We do not propose these measures as substitutes for molecular confirmation or ADAMTS13 monitoring, but rather as practical adjunctive tools when advanced testing is inaccessible.

Six months later, while trying to become pregnant again, the frequency of her preventive treatment was increased to fresh frozen plasma every 10 days. Testing showed that her ADAMTS13 had returned to the normal range of activity.

“After multidisciplinary consultation, she was counseled to proceed with another pregnancy,” the researchers wrote.

Because regular ADAMTS13 testing was expensive and not widely available in Iran, her doctors monitored her with complete blood counts and lactate dehydrogenase, an enzyme that rises when red blood cells are being damaged. These tests helped detect early signs of disease while she continued receiving fresh frozen plasma every 10 days.

During the third trimester, her enzyme’s activity fell to 2.4%. To prevent another relapse, her doctors increased the infusions of fresh frozen plasma to once a week. She remained free of serious complications such as hypertension (high blood pressure) and preeclampsia, although she developed gestational diabetes (diabetes that’s first diagnosed during pregnancy), which was controlled with diet alone.

At full term, she delivered a baby boy by planned cesarean section. After delivery, she continued fresh frozen plasma every 10 days for six weeks before returning to her long-term schedule of every two weeks. This case shows that preventive treatment, close monitoring, and coordinated care can help women with TTP achieve successful full-term pregnancies, even when ADAMTS13 testing is not available.

“In resource-limited settings, longitudinal clinical monitoring becomes particularly important,” the researchers wrote. “We do not propose these measures as substitutes for molecular confirmation or ADAMTS13 monitoring, but rather as practical adjunctive tools when advanced testing is inaccessible.”