In 2012, Resheemah Wynn went to the emergency room with what she thought was the flu. Within 24 hours, she was dead.
The cause was cardiac arrest brought on by a rare blood disorder called acquired thrombotic thrombocytopenic purpura, or aTTP. It develops when the immune system stops the enzyme ADAMTS13 from working properly. Without this enzyme, the body creates too many clots, which blocks the flow of blood to such organs as the brain, kidneys, and heart.
In the case of Wynn, the blood clots formed in her heart. When she went to the ER, doctors noticed small, flat red spots under the skin called petechiae—a symptom of aTTP. While they knew to test for the disorder, they didn’t get a chance to give her plasma exchange, which is one of the main life-saving treatments for aTTP.
Medical professionals say that not all doctors would even know to test for the disorder in the first place. aTTP is diagnosed at a rate of only a few people per million each year worldwide. Symptoms can include petechiae (as mentioned earlier), pale or yellow skin color, headaches, and shortness of breath.
These signs and symptoms of aTTP tend to appear most frequently between the ages of 30 and 50. Although it usually begins in adulthood, it can affect children. Black women, like Wynn, appear to have the highest prevalence of aTTP. It is also 2.5x to 3.5x more common in women than men. And African Americans have a 7-fold higher incidence than Non-African Americans.
It’s unclear what triggers aTTP, but some factors may play a role, including:
- Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections
- Some medical procedures, such as surgery and blood and marrow stem cell transplant
- Certain drugs or medications, including chemotherapy, hormone therapy, and estrogen-based medicines (such as oral contraceptives)
The increased blood clotting that occurs in aTTP occurs suddenly and lasts for days or weeks, but it can continue for months. aTTP can be fatal. Without prompt treatment, it can cause long-term problems, such as brain damage or stroke.
Treatment with plasma exchange, corticosteroids, and other immunosuppression treatments stops symptoms in most people with aTTP. In recent years, there has been a treatment approved for aTTP that can be used in addition to this care regimen for faster clinical response. But, in up to 60% of people who’ve been treated, the disease comes back, or relapses. Usually the relapses happen in the first 1 to 2 years after aTTP was first diagnosed.
Once an acute aTTP episode is resolved, a number of long-term side effects could appear in the form of headaches, hypertension, memory impairment, and a higher risk of death. These side effects can affect mental health, sometimes causing depression and post-traumatic stress disorder as well.
Still, more research on aTTP, particularly the incidence of the disease in Black women, is needed. James Wynn, Resheemah Wynn’s brother, started the Ree Wynn Foundation along with his late mother mere days after she died. At the time, his mother told friends and family who wished to give bereavement gifts to donate to an aTTP foundation instead. But the family struggled to find one, says James.
That spurred the Wynns into action. “My mom told me, ‘we’re going to start our own foundation,’ and that I needed to figure out how to do it,” says James, who had previously worked at non-profit organizations.
The Ree Wynn Foundation aims to increase awareness and support research efforts for treatment of aTTP. It also raises funds to provide grant opportunities for organizations committed to reducing complications and fatalities. The foundation has a particular focus on women’s health, since this population is most affected by the disorder.
James says the majority of the people who come to the Ree Wynn Foundation share that their aTTP episode had been originally diagnosed as something else. And the results would have been more dire had they not ended up at a teaching hospital specializing in hematology or blood disorders.
“My charge to the Black community is to help us to push for a checklist that will at least help doctors identify and rule out aTTP before the physical symptoms start,” says James. “It’s very difficult for anyone to identify what is causing you to have these symptoms [that are actually caused by aTTP].”
Clare Martin, director of operations at The United States Thrombotic Microangiopathy (USTMA) Consortium, says that fortunately, patient voices are being heard when it comes to raising awareness about aTTP. The USTMA Consortium consists of a group of researchers whose aim is to improve outcomes of aTTP through observational studies, clinical trials of novel therapies, and translational research.
“Before, there were aTTP symptoms, like headaches, that were common in patients but not recognized by the medical community,” says Martin. “But now the people that are needing help are being listened to and given the necessary resources to address this illness.”
She adds that this discovery of headache as one of the symptoms for aTTP was due to aTTP-focused support groups led by hematologist Dr. Jim George at the University of Oklahoma.
If you have symptoms that seem to point to aTTP, make sure to advocate for yourself—and ask your doctor about this rare disease.
A healthcare contribution for this article was provided by Sanofi.