Thane: A 32-year-old woman who suffered three strokes within a month was diagnosed with hereditary Thrombotic Thrombocytopenic Purpura (TTP), a rare inherited blood disorder, after doctors at KIMS Hospitals, Thane, identified signs pointing beyond conventional causes of stroke.
The patient had experienced her first stroke at the age of 29, which left her with weakness on the left side of her body. Three years later, she suffered another stroke, followed by repeated episodes of weakness and fresh areas of brain injury detected on MRI scans.
Her condition soon worsened, with a sharp fall in platelet count, declining hemoglobin levels and deteriorating kidney function. She also developed confusion, swelling and breathlessness, prompting intensive evaluation and treatment.
Looking beyond conventional stroke causes
Dr. Nikhil Jadhav, Consultant Neurologist, KIMS Hospitals, Thane, recognised that the combination of recurrent strokes and worsening blood and kidney parameters could indicate an underlying disorder rather than a conventional stroke alone.
“When a young patient experiences repeated strokes, particularly alongside a rapidly falling platelet count, anemia and kidney dysfunction, it is important to look beyond the usual causes. These symptoms together can point towards a rare but potentially life-threatening condition such as TTP, where early diagnosis and treatment can make a critical difference,” said Dr. Nikhil Jadhav, Consultant Neurologist, KIMS Hospitals, Thane.
Blood investigations revealed fragmented red blood cells, known as schistocytes, indicating that red blood cells were being destroyed within the circulation. Along with the severely reduced platelet count, kidney dysfunction and neurological symptoms, these findings raised suspicion of TTP.
Urgent treatment helps reverse the decline
TTP causes tiny blood clots to form in small blood vessels, potentially affecting vital organs such as the brain and kidneys. Without prompt treatment, the condition can become fatal.
Following discussions with nephrologist Dr. Pooja Binani, the patient was urgently started on plasma exchange (PLEX), a procedure that removes the abnormal plasma and replaces it with healthy plasma. She also received high-dose steroids and supportive treatment for a urinary tract infection that had progressed to sepsis.
Although the initial antibody testing for TTP was negative, the medical team continued treatment based on the overall clinical findings.
Following three plasma exchange sessions and a unit of packed red blood cells, the patient’s hemoglobin rose to 9.5 g/dL and her platelet count recovered to 2.16 lakh/µL. Her urine output returned, kidney function improved and her confusion resolved. She was discharged eight days after admission and was able to walk out of the hospital.
Genetic testing reveals the underlying cause
Further genetic testing subsequently identified a mutation in the ADAMTS13 gene, confirming hereditary TTP. This rare inherited condition can remain undiagnosed for years and may cause recurrent episodes of low platelets, anemia, neurological symptoms and kidney complications.
The patient’s treatment involved a multidisciplinary team, including Dr. Pooja Binani (Nephrology), Dr. Amit Raodeo and Dr. Yogendra Sharma (Critical Care), and Dr. Vishal Mehrotra (Pathology), alongside the ICU, nursing and laboratory teams.
The case highlights the importance of investigating unusual blood abnormalities in young patients with recurrent strokes. Recognising the combination of neurological symptoms, falling platelets, anemia and kidney dysfunction can help doctors identify rare conditions such as TTP and initiate potentially life-saving treatment without delay.
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