Pregnancy-Triggered Hereditary Thrombotic Thrombocytopenic Purpura: A Case Report

Hereditary thrombotic thrombocytopenic purpura (hTTP), as an autosomal recessive hereditary disease, pregnancy is one of its recognized trigger factors. The lag in the diagnosis and treatment of this disease can lead to serious adverse pregnancy outcomes. In clinical practice, a high degree of vigilance should be maintained and timely treatment should be given to strive for better pregnancy outcomes.

A 36-year-old woman has undergone 4 pregnancies over a period of 25 years. Due to the insufficient diagnosis capabilities at that time, it was not until the 3rd pregnancy when the patient again presented with severe thrombocytopenia in the second trimester that she was diagnosed with hTTP in our hospital. However, since the optimal treatment opportunity was missed, even though active plasma infusion was carried out, fetal death still occurred. In 2024, the patient got pregnant again, and this was her 4th pregnancy. During this pregnancy, the patient underwent preventive plasma infusion therapy throughout and no serious complications emerged. Ultimately, she gave birth to a full-term baby in February 2025.

We report a case of hTTP caused by complex compound heterozygous gene mutations. Currently, pregnancy is the only trigger for the patient's illness. Timely identification, early differential diagnosis from obstetric complications, and active management are crucial for improving the pregnancy outcome of hTTP patients. We adopted a more conservative strategy of prophylactic plasma infusion during pregnancy and also achieved good maternal and fetal outcomes.