Mumbai: A 32-year-old woman who suffered three strokes within a month in September was diagnosed with hereditary Thrombotic Thrombocytopenic Purpura (TTP), a rare inherited blood disorder, by doctors at KIMS Hospitals, Thane. The diagnosis followed investigations into recurring brain injuries, falling platelet counts and deteriorating kidney function.
Woman Suffered First Stroke At 29, Three More Three Years Later
The woman had suffered her first stroke at the age of 29, which left her with weakness on the left side of her body. Three years later, she experienced three consecutive strokes within a month, with MRI scans revealing fresh areas of brain injury.
Her condition subsequently deteriorated, with a sharp decline in platelet and haemoglobin levels, worsening kidney function, confusion, swelling and breathlessness.
Neurologist Suspects Unusual Cause Behind Recurrent Strokes
Dr Nikhil Jadhav, consultant neurologist at KIMS Hospitals, Thane, said the combination of symptoms prompted doctors to investigate causes beyond conventional stroke.
“When a young patient experiences repeated strokes alongside falling platelets, anaemia and kidney dysfunction, it is important to look beyond the usual causes,” he said.
Blood Tests Reveal Signs Of Rare Life-Threatening TTP Disorder
Blood investigations revealed fragmented red blood cells, known as schistocytes, indicating the destruction of red blood cells within the circulation. Along with the severely reduced platelet count and neurological symptoms, these findings raised suspicion of TTP, a potentially life-threatening condition in which tiny blood clots form in small blood vessels and can damage vital organs.
Following consultations with nephrologist Dr Pooja Binani, the patient was urgently started on plasma exchange (PLEX), a procedure that removes abnormal plasma and replaces it with healthy plasma. She also received high-dose steroids and treatment for a urinary tract infection that had progressed to sepsis.
Doctors Continue Treatment Despite Negative Initial Antibody Test
Although initial antibody testing for TTP was negative, doctors continued treatment based on the overall clinical findings.
After three plasma exchange sessions and a unit of packed red blood cells, her haemoglobin rose to 9.5 g/dL and her platelet count recovered to 2.16 lakh per microlitre. Her urine output returned, kidney function improved and confusion resolved. She was discharged eight days after admission and was able to walk out of the hospital.
Subsequent genetic testing identified a mutation in the ADAMTS13 gene, confirming hereditary TTP. The rare inherited condition can remain undiagnosed for years and cause recurrent episodes of low platelets, anaemia, neurological complications and kidney damage.
“The case highlights the importance of investigating unusual blood abnormalities in young patients with recurrent strokes, as timely diagnosis and treatment can help prevent further organ damage,” said Dr Jadhav.
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