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The clinical presentation ranges from life-threatening, acute, overt TTP events to milder TTP manifestations, including thrombocytopenia, haemolytic anaemia, abdominal pain, headaches and neurological symptoms. ^{1 1. Scully M, et al. N Engl J Med. 2024;390(17):1584-1596.}  End-organ damage due to recurrent overt and nonovert TTP, such as stroke, chronic kidney disease, or cardiac involvement, can also develop. ^{1 1. Scully M, et al. N Engl J Med. 2024;390(17):1584-1596.}

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As well as acute events, ongoing subacute manifestations of cTTP can also occur despite the absence of typical clinical and laboratory findings. ^{1 1. Scully M, et al. N Engl J Med. 2024;390(17):1584-1596. 2 2. Alwan F, et al. Blood. 2019;133(15):1644–1651.} Symptoms of subacute cTTP can include lethargy, headaches, migraines and abdominal pain. It is important for clinicians to be aware of these manifestations as they may indicate underlying disease. ^{2 2. Alwan F, et al. Blood. 2019;133(15):1644–1651.} Additionally, over time, cTTP can result in long-term neurological, cardiovascular, or renal complications. ^{1 1. Scully M, et al. N Engl J Med. 2024;390(17):1584-1596.}  Retrospective data has shown that patients with TTP have a higher mortality rate as compared to the general population. ^{3 3. Sukumar S, et al. Cardiovascular Disease Is a Leading Cause of Death in Thrombotic Thrombocytopenic Purpura (TTP) Survivors. Poster presented at the 62nd American Society of Hematology Annual Meeting and Exposition in a Virtual meeting on 5–8 December 2020.}  This suggests that TTP should be viewed as a chronic disease with acute episodes. ^{4 4. Sakai K et al. J Clin Med. 2023;12(10):3365. 5 5. Nuñez Zuno JA, et al. Thrombotic Thrombocytopenic Purpura Evaluation and Management. [Updated 2020 Jan 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470585/. Accessed June 2024.}

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In a study integrating inputs from a literature review, expert opinion, and patient interviews, patients interviewed by telephone indicated that the most salient impacts of cTTP were the diminished ability to work/study, financial distress, feeling depressed, feeling anxious, and mood swings. ^{6 6. Oladapo AO, et al. Patient. 2019;12(5):503–512.}

In practice, the signs and symptoms associated with cTTP are highly complex and can vary widely between patients. ^{1 1. Scully M, et al. N Engl J Med. 2024;390(17):1584-1596. 7 7. Oladapo A, et al. J Patient Rep Outcomes. 2023;7(1):68.} They can range from asymptomatic disease, to a single episode and chronic-relapsing forms, and multiorgan failure. ^{1 1. Scully M, et al. N Engl J Med. 2024;390(17):1584-1596. 7 7. Oladapo A, et al. J Patient Rep Outcomes. 2023;7(1):68.} An increased awareness of the clinical manifestations of cTTP, including patient-reported outcomes, is important in order to provide adequate short-term and long-term treatment. ^{7 7. Oladapo A, et al. J Patient Rep Outcomes. 2023;7(1):68.}

Acronyms

cTTP, Congenital TTP

SmPC, Summary of product characteristics

TTP, Thrombotic thrombocytopenic purpura