• Science Saturday: Collaborative study discovers new disease behind patient’s recurring blood clots

a medical illustration of a blood clot

In 2018, a male patient in his 60s began experiencing chest pains, which turned out to be caused by multiple blood clots in his lungs. As he visited several institutions in and around his home state of Michigan, doctors conducted the typical testing panels to look for a condition called thrombophilia that causes blood clots to form too easily. But tests did not confirm the known thrombophilic conditions.

"So people were not able to give him an answer as to why he had thrombosis with potentially life-threatening clots," says Anand Padmanabhan, M.B.B.S., Ph.D., a Mayo Clinic laboratory medicine and pathology specialist.

A collaboration between Mayo Clinic and University of Michigan Health solved the medical mystery. The work led to the development at Mayo Clinic of a new methodology to test for clotting disease and the identification of a previously unknown blood clotting condition.   

A clotting condition that didn't add up

In addition to the unexplained clotting, several details about the man's condition baffled the clinicians he had seen. Why, for instance, did he have intermittent low platelet counts, known as thrombocytopenia? He was seen by Jordan Schaefer, M.D., a hematologist at University of Michigan who specializes in thrombotic disorders.

Even though he had normal platelet values, the patient’s history was concerning for the medication-related complication known as heparin-induced thrombocytopenia, or HIT. Testing confirmed this diagnosis. However, the most mysterious detail of his condition was that even though the man was no longer taking the blood-thinning drug heparin, he continued to test positive for HIT in follow-up.

Read the rest of the article on the Discovery's Edge blog.


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