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Congenital thrombotic thrombocytopenic purpura (cTTP): Through suffering to diagnosis

MedExpress Team

Medexpress

Published April 22, 2025 10:58

Congenital thrombotic thrombocytopenic purpura (cTTP): Through suffering to diagnosis - Header image
Fot. Getty Images/iStockphoto
- My sister did not live to see the diagnosis. I never met her. I had my first symptoms when I was seven months old," says Adrianna Mleczko, a patient with congenital thrombotic thrombocytopenic purpura (cTTP). It is an ultra-rare, unpredictable blood disease that can go undiagnosed for years. Its symptoms are sometimes discrete, but the consequences - dramatic.

Congenital thrombotic thrombocytopenic purpura is one of the rarest diseases of the hematopoietic system. It can produce no symptoms for years, only to suddenly strike with full force. It is also a real chameleon, as it can perfectly mimic many other diseases. In childhood, the symptoms can be discreet but misleading - so much so that over the years patients are treated for completely different diseases. Such was the case with Roman Gruszczyk, who had his first bout of the disease as an infant, and only heard the proper diagnosis at age 45. - Symptoms can be neurological - tangles, strokes, speech problems - or they can be nephrological, such as kidney failure, says Dr. Joanna Zdziarska, a hematologist who specializes in thrombocytopenia. - Patients often go to neurologists or nephrologists first. Many times the disease is diagnosed only after many years and misdiagnoses, she adds.

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