An early diagnosis helps woman with TTP deliver healthy baby
Condition is like other pregnancy complications, making it hard to identify
A woman in Spain delivered a full-term, healthy baby after she was identified early as having congenital thrombotic thrombocytopenic purpura (TTP) and treated successfully for the condition.
The woman was diagnosed based on ADAMTS13 activity testing and the presence of mutations in the ADAMTS13 gene, including a variant not previously described. The treatment continued for some time after the delivery to prevent further complications.
“This case highlights the diagnostic challenges of [congenital] TTP during pregnancy and emphasizes the importance of early ADAMTS13 activity testing,” the researchers wrote. The case report, “Rare onset of congenital thrombotic thrombocytopenic purpura during pregnancy: A novel ADAMTS13 gene variant,” was published in Transfusion.
Congenital TTP is caused by genetic mutations that result in a severe deficiency of ADAMTS13, an enzyme that regulates blood clotting and helps prevent small cell fragments called platelets that help blood clot from forming clots when they aren’t needed. This results in small clots forming in blood vessels, which can cause organ damage.
The disease can affect anyone, but pregnancy is a precipitating factor and diagnosing and treating it early is essential to prevent complications for both the mother and fetus. It may be difficult to diagnose early, however, as the condition is similar to other pregnancy-related complications.
Reaching an early TTP diagnosis
In this case, the woman, 35, was pregnant for the first time and developed TTP in her 32nd week. She went to the emergency department with a frontal headache, vision changes, upper abdominal pain, dizziness, and swelling of the hands, feet, and face.
When she was evaluated, she had proteins in her urine and high blood pressure, and was admitted to receive intravenous anti-hypertensive treatment. Laboratory work showed low platelet counts, mild anemia (low hemoglobin levels), and the presence of schistocytes, which are red blood cell fragments that indicate red blood cells are being destroyed. The Plasmic Score for TTP, used to predict the risk of ADAMTS13 deficiency with suspected TTP, indicated a high risk of severe enzyme deficiency.
She started daily treatment with corticosteroids and plasma exchange, a medical procedure wherein a patient’s plasma, the noncellular part of blood, is removed and replaced with that of a healthy donor.
Results from an ADAMTS13 activity test confirmed the enzyme’s activity was severely reduced. A genetic analysis also showed two gene variants in the ADAMTS13 gene, leading to a congenital TTP diagnosis. One mutation was a previously reported disease-causing variant, while the other was absent from databases and considered new.
Based on the diagnosis, the corticosteroids were discontinued and the plasma exchange was stopped once the woman’s blood parameters normalized and her symptoms resolved. The plasma infusions and plasma exchange were resumed nine days later due to a new decline in platelet levels, however.
The woman delivered a healthy baby at 37 weeks and was prescribed outpatient treatment with plasma infusions every two weeks during the six weeks after childbirth. Regular monitoring showed ADAMTS13 activity stabilized and the woman remained free of relapses.
“Although several international guidelines address [congenital] TTP management, individualized pregnancy and postpartum strategies remain essential,” the researchers wrote. “Our case supports the role of plasma prophylaxis and genetic confirmation in guiding long-term management plans for affected individuals.”
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