Sydney Kodatsky had had migraines before, but none that caused sudden, complete loss of vision. This time when Kodatsky took off her swimming goggles after a swim, her headache intensified and the world went black.
Her husband rushed her to the emergency room, where they waited more than five hours only to learn that headaches and vision loss were symptoms of a migraine attack. Even so, the pain got worse and her eyesight did not return. The next day she visited her family doctor because she still had problems with her vision. The doctor told her not to worry, as migraines can sometimes last for up to three weeks.
As a healthy 28-year-old, Kodatsky realized that her migraine attack was not typical of her, but felt unsafe when harassing doctors. However, her mother insisted on seeing a specialist. Kodatsky relented and made an appointment with a hematologist who ordered a blood test, which revealed that Kodatsky had or had an extremely rare, life-threatening autoimmune blood disease called acquired thrombotic thrombocytopenic purpura aTTP. Her mother’s insistence may have saved Kodatsky’s life.
Rare, but life-threatening
ATTP is a blood disorder that causes Platelets to clump together and form small blood clots all over the body. The disorder is associated with lower than normal levels of a protein called ADAMTS13, which is responsible for breaking down another blood clotting protein in the body. Without normal ADAMTS13 levels, the protein can build up in the bloodstream and cause platelets to stick together and form clots that can slow blood flow to the heart, brain, kidneys, and other organs. This can be fatal.
Corresponding Dr. Camila Masias, a hematologist at the Miami Cancer Institute, aTTP can present with mild symptoms such as fever, fatigue, and bruising to a variety of neurological symptoms such as headache, confusion, or difficulty speaking or moving. In some cases, aTTP symptoms can resemble a stroke. People with this condition often experience tiredness and shortness of breath associated with low levels of hemoglobin, a protein that carries oxygen in the blood. In some, but not all, cases tiny purple or red spots called petechiae appear. Petechiae can appear anywhere in people with aTTP, but are most likely to occur in the lower extremities of the body.
ATTP is a rare disease that is only diagnosed at the rate of a few people per million a year worldwide. In fact, Masias says she only comes across aTTP about five times a year in her specialty practice for blood disorders. Although 80% of the aTTP patients she treats are women, the disorder also affects men. The signs and symptoms of aTTP most commonly appear between the ages of 30 and 50.
If a patient is showing symptoms, their doctor will likely review key blood health indicators, including ADAMTS levels13. However, because aTTP is a medical emergency, the hematologist will often make a clinical diagnosis based on symptoms before the test results are available and begin treatment.
Although the cause is not well understood, doctors have identified triggers that may be linked to aTTP. “These triggers include viral illness, stress, pregnancy, or surgery,” Masias said, “but we’re still not sure why some people develop aTTP and others don’t.”
If left untreated, some research has shown that up to 90% of people with aTTP die from an episode. Treatment is available, and if possible, patients should try to find someone who specializes in aTTP, e.g. B. a hematologist.
While some patients may never relapse, some, like Kodatsky, experience multiple episodes of aTTP.
Long-term effects of aTTP
“After the acute episode subsides, patients with aTTP experience a number of long-term side effects,” said Masias. These long-term effects can affect mental health and sometimes cause depression as well Post Traumatic Stress Disorder (PTSD). Physical side effects can also persist in the form of headaches, high blood pressure and memory problems.
Masias added, “We don’t really know how this happens and why some people develop this, but we are researching to find out. In rare diseases, clinical trials are extremely difficult to conduct as it is obviously harder to recruit. “Patients, and that slows progress.”
Find support through advocacy
Kodatsky has taken proactive steps to gather their community together and raise funds for further research. With the help of a few friends and family members, she founded a non-profit organization, Response from the TTP Foundationto help people with aTTP and raise money for new therapies that Kodatsky said will hopefully make any crisis less deadly.
Kodatsky is grateful for her mother’s insistence on seeing a specialist and all of those who helped her with the six episodes of aTTP she experienced in her life. She said she silently thanked the people who influenced her along the way while she was receiving treatment for an episode. It’s good karma, she explained. And she needs it.
“I don’t buy lottery tickets,” said Kodatsky. “All my good karma must serve my health.”
This resource was created with the assistance of Sanofi Genzyme.
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