Review
Genetics & Heredity
Sanober Nusrat, Kisha Beg, Osman Khan, Arpan Sinha, James George
Summary: Hereditary thrombotic thrombocytopenic purpura (hTTP), also known as Upshaw-Schulman syndrome, is a rare genetic disorder caused by mutations in the ADAMTS13 gene that leads to decreased or absent production of the plasma von Willebrand factor (VWF)-cleaving metalloprotease ADAMTS13. The disease can cause thrombocytopenia, impairment of blood circulation, and organ damage. Prophylaxis with plasma infusions or plasma-derived factor VIII products is the primary treatment for preventing acute episodes.
Article
Medicine, Research & Experimental
Hangping Ge, Zhan Shi, Zhiyin Zheng, Qiuping Zhu, Lili Hong, Yu Zhang, Jianping Shen, Shu Deng
Summary: This case report describes a 33-year-old Chinese woman with a history of immune thrombocytopenic purpura who presented with heavy menstrual bleeding. The patient was diagnosed with the coexistence of thrombotic thrombocytopenic purpura and immune thrombocytopenic purpura. After treatment, including plasmapheresis, glucocorticoid, and rituximab, the patient's condition improved and she was discharged.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2022)
Article
Medicine, General & Internal
Ching-Hu Chung, I-Jung Tsai, Min-Hua Tseng, Hsin-Hsu Chou, You-Lin Tain, Jeng-Daw Tsai, Yuan-Yow Chiou, Yee-Hsuan Chiou, Ching-Yuang Lin
Summary: Thrombotic microangiopathy (TMA) syndromes exhibit diverse clinical presentations and etiologies, with common triggers in Taiwan such as pregnancy and systemic lupus erythematosus. The mortality rate in TMA patients treated with plasmapheresis is significantly higher than those without treatment, indicating potential masked underlying etiologies or worsening disease conditions.
Article
Hematology
George Goshua, Pranay Sinha, Jeanne E. Hendrickson, Christopher Tormey, Pavan K. Bendapudi, Alfred Ian Lee
Summary: The addition of caplacizumab to standard of care in acquired TTP treatment is not cost-effective due to the high cost of the medication and lack of improvement in relapse rates. Further study on the long-term impact of caplacizumab on health system cost is warranted.
Review
Hematology
Rebecca J. Shaw, Tina Dutt
Summary: Thrombotic thrombocytopenic purpura is a rare and potentially fatal condition with neurological complications that have a significant impact on patient prognosis. Neuroimaging may play a crucial role in guiding treatment and preventing vascular diseases as our understanding of the acute and chronic stages of TTP deepens. Reduced ADAMTS13 activity levels are associated with increased thrombotic risk, and novel therapies may offer neuroprotective effects. Screening and timely intervention for TTP patients are of great importance.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Review
Medicine, General & Internal
Senthil Sukumar, Bernhard Lammle, Spero R. Cataland
Summary: TTP is a rare but dangerous disorder characterized by hemolysis, thrombocytopenia, and ischemic damage, often caused by ADAMTS13 deficiency. Front-line treatment typically involves plasma exchange and immunosuppression, as well as drugs like rituximab and caplacizumab. Refractory cases may require alternative therapies.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Hematology
Charlotte Dekimpe, Elien Roose, Kazuya Sakai, Claudia Tersteeg, Simon F. De Meyer, Karen Vanhoorelbeke
Summary: Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare disorder caused by a deficiency in ADAMTS-13. Current management involves plasma infusions of ADAMTS-13, but this is a demanding therapy with frequent allergic reactions. Gene therapy has the potential to provide a curative therapy for cTTP, and ongoing research is focused on various preclinical approaches. This review highlights the challenges of developing a gene therapy product for cTTP and provides an overview of the current state of preclinical gene therapy studies.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Review
Medicine, General & Internal
Raphael Cauchois, Romain Muller, Marie Lagarde, Francoise Dignat-George, Edwige Tellier, Gilles Kaplanski
Summary: Thrombotic thrombocytopenic purpura (TTP) is a severe thrombotic microangiopathy. The deficiency of ADAMTS13 leads to accumulation of Ultra Large-Von Willebrand Factor multimers, resulting in disseminated microthrombi. However, the role of endothelial cells in this pathology remains controversial.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Hematology
I. Gomez-Segui, E. Frances Aracil, M. E. Mingot-Castellano, M. Vara Pampliega, R. Goterris Viciedo, F. Garcia Candel, C. Pascual Izquierdo, J. del Rio Garma, L. Guerra Dominguez, I. Vicuna Andres, J. Garcia-Arroba Peinado, S. Zalba Marcos, J. M. Vidan Estevez, E. Gonzalez Arias, V. Campuzano Saavedra, J. M. Garcia Gala, S. Ortega Sanchez, J. Martinez Nieto, L. Pardo Gambarte, M. Sole Rodriguez, M. Fernandez-Docampo, L. F. Avila Idrovo, L. Hernandez, J. Cid, J. de la Rubia Comos
Summary: The clinical characteristics and treatment response of immune thrombotic thrombocytopenic purpura (iTTP) in older patients were analyzed and compared with younger patients. Similar symptoms and laboratory results were observed in both groups, but older patients had a higher incidence of renal dysfunction. The frontline treatment and clinical outcomes did not differ between the two age groups. Notably, the use of caplacizumab and rituximab showed favorable safety and efficacy profiles in older patients.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Hematology
Severine de Bruijn, Marie-Berthe Maes, Laure De Waele, Karen Vanhoorelbeke, Alain Gadisseur
Summary: This case report describes a 38-year-old woman who developed de novo iTTP after receiving an mRNA-based COVID-19 vaccine. She presented with skin bruising and petechiae 2 weeks after vaccination. Treatment with plasma exchange, corticosteroids, rituximab, and caplacizumab was successful in managing her condition.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Review
Hematology
X. Long Zheng
Summary: For immune thrombotic thrombocytopenic purpura (iTTP), the triple therapy consisting of therapeutic plasma exchange, caplacizumab, and immunosuppressives has been proven to be an effective treatment for acute episodes, accelerating platelet count normalization, reducing ICU and hospital stays, and most importantly, lowering mortality rate.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Review
Immunology
Imen Ben Saida, Iyed Maatouk, Radhouane Toumi, Emna Bouslama, Hajer Ben Ismail, Chaker Ben Salem, Mohamed Boussarsar
Summary: This is the first report of acquired TTP after inactivated virus COVID-19 vaccination, and the patients recovered after treatment with corticosteroids, plasma exchange therapy, and rituximab.
Article
Hematology
Oluwatobi Odetola, Karlyn A. Martin, Marie Dreyer, Priya Rajan, Anaadriana Zakarija, Brady L. Stein
Summary: Managing TTP in pregnancy can be challenging, especially if traditional treatments are ineffective. Off-label use of caplacizumab may be a reasonable option in refractory cases to achieve disease control and prevent maternal and fetal morbidity and mortality.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Review
Medicine, General & Internal
Hui Zhu, Jing-Yao Liu
Summary: Considerable advances have been made in understanding thrombotic thrombocytopenic purpura (TTP) in the last 2 decades. This article summarizes the clinical manifestations of TTP and associated diseases, emphasizing the importance of early recognition in patients with atypical presentation, especially those with concomitant autoimmune diseases or age-related comorbidities.
Review
Medicine, General & Internal
Sofiane Fodil, Lara Zafrani
Summary: Thrombotic thrombocytopenic purpura (TTP) is a multiorgan disorder often requiring intensive care unit (ICU) admission for urgent treatment and close monitoring.
JOURNAL OF CLINICAL MEDICINE
(2022)
