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Blood Jun 2023
Topics: Humans; Purpura, Thrombotic Thrombocytopenic; Antibodies, Monoclonal; Purpura, Thrombocytopenic, Idiopathic; Rituximab; ADAMTS13 Protein
PubMed: 37318910
DOI: 10.1182/blood.2023020512 -
Genes Oct 2023Hereditary thrombotic thrombocytopenic purpura (hTTP), also known as Upshaw-Schulman syndrome, is a rare genetic disorder caused by mutations in the ADAMTS13 gene that... (Review)
Review
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 result is circulating ultra-large multimers of VWF that can cause microthrombi, intravascular occlusion and organ damage, especially at times of turbulent circulation. Patients with hTTP may have many overt or clinically silent manifestations, and a high index of suspicion is required for diagnosis. For the treatment of hTTP, the goal is simply replacement of ADAMTS13. The primary treatment is prophylaxis with plasma infusions or plasma-derived factor VIII products, providing sufficient ADAMTS13 to prevent acute episodes. When acute episodes occur, prophylaxis is intensified. Recombinant ADAMTS13, which is near to approval, will immediately be the most effective and also the most convenient treatment. In this review, we discuss the possible clinical manifestations of this rare disease and the relevant differential diagnoses in different age groups. An extensive discussion on prophylaxis and treatment strategies is also presented. Unique real patient cases have been added to highlight critical aspects of hTTP manifestations, diagnosis and treatment.
Topics: Humans; Purpura, Thrombotic Thrombocytopenic; von Willebrand Factor; ADAM Proteins; Mutation; Diagnosis, Differential
PubMed: 37895305
DOI: 10.3390/genes14101956 -
CMAJ : Canadian Medical Association... Jun 2023
Topics: Female; Humans; Purpura; Vomiting
PubMed: 37364906
DOI: 10.1503/cmaj.221540-f -
European Journal of Haematology Dec 2022In late February 2021, a prothrombotic syndrome was encountered for the first time in some of the recipients of ChAdOx1 CoV-19 vaccine (AstraZeneca, University of... (Review)
Review
In late February 2021, a prothrombotic syndrome was encountered for the first time in some of the recipients of ChAdOx1 CoV-19 vaccine (AstraZeneca, University of Oxford, and Serum Institute of India). Since the hallmark of this syndrome is the development of thrombocytopenia and/or thrombosis between 4 and 42 days after receiving a COVID-19 vaccine, it was named vaccine-induced immune thrombotic thrombocytopenia (VITT). Other names include "vaccine-induced prothrombotic immune thrombocytopenia" and "thrombosis with thrombocytopenia syndrome" by the Centers for Disease Control and the Food and Drug Administration (FDA). VITT appears similar to heparin-induced thrombocytopenia in that "platelet activating" autoantibodies are produced in both these conditions due to prior exposure of COVID-19 vaccine and heparin respectively, in turn causing thrombotic complications and consumptive thrombocytopenia. In this article, recent advances in the understanding of pathobiology, clinical features, investigative work-up, and management of VITT are reviewed.
Topics: Humans; COVID-19; COVID-19 Vaccines; Purpura, Thrombocytopenic, Idiopathic; Thrombocytopenia; Thrombosis; Vaccines
PubMed: 36030503
DOI: 10.1111/ejh.13855 -
Blood Dec 2022
Topics: Humans; Qi; Purpura, Thrombocytopenic, Idiopathic; Decitabine; Myeloid-Derived Suppressor Cells; Thrombocytopenia
PubMed: 36580341
DOI: 10.1182/blood.2022018373 -
Hamostaseologie Feb 2024
Topics: Humans; Purpura, Thrombocytopenic, Idiopathic; Thrombocytopenia; Thrombosis
PubMed: 38417798
DOI: 10.1055/s-0044-1782593 -
Tidsskrift For Den Norske Laegeforening... May 2024
Topics: Humans; Purpura; Golf
PubMed: 38738575
DOI: 10.4045/tidsskr.24.0262 -
Ugeskrift For Laeger May 2020In this review, we discuss pigmented purpuric dermatoses (PPD), which are a group of benign, chronic diseases characterised by purpuric eruption. PPD comprise mb.... (Review)
Review
In this review, we discuss pigmented purpuric dermatoses (PPD), which are a group of benign, chronic diseases characterised by purpuric eruption. PPD comprise mb. Schamberg, mb. Majocchi, Gougerot-Blum, lichen aureus, and Doucas and Kapetanakis eczematoid purpura. PPD can be seen in both genders and may affect all age groups. Purpura is often localised to the lower extremities, and it may be asymptomatic or pruritic. PPD is usually diagnosed upon recognition of classical clinical features, but the diagnosis can also be confirmed by a skin biopsy.
Topics: Female; Humans; Keratosis; Male; Pigmentation Disorders; Pruritus; Purpura; Skin
PubMed: 32515323
DOI: No ID Found -
International Journal of Hematology Mar 2023Immune thrombocytopenia (ITP), thrombotic thrombocytopenic purpura (TTP), and vaccine-induced immune thrombotic thrombocytopenia (VITT) all have "thrombocytopenia" in... (Review)
Review
Immune thrombocytopenia (ITP), thrombotic thrombocytopenic purpura (TTP), and vaccine-induced immune thrombotic thrombocytopenia (VITT) all have "thrombocytopenia" in their name, and all but congenital TTP are caused by immune mechanisms, but these conditions are quite different in their clinical features and pathophysiology. This review series covers recent progress in pathophysiology and treatment of these diseases, as well as a recent epoch-making clinical trial of induced pluripotent stem cells (iPSC)-derived platelets for patients with thrombocytopenia.
Topics: Humans; Purpura, Thrombotic Thrombocytopenic; Purpura, Thrombocytopenic, Idiopathic; Blood Platelets
PubMed: 36656456
DOI: 10.1007/s12185-023-03542-w -
Blood Sep 2017The discovery of a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, member 13 (ADAMTS13) revolutionized our approach to thrombotic... (Review)
Review
The discovery of a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, member 13 (ADAMTS13) revolutionized our approach to thrombotic thrombocytopenic purpura (TTP). Inherited or acquired ADAMTS13 deficiency allows the unrestrained growth of microthrombi that are composed of von Willebrand factor and platelets, which account for the thrombocytopenia, hemolytic anemia, schistocytes, and tissue injury that characterize TTP. Most patients with acquired TTP respond to a combination of plasma exchange and rituximab, but some die or acquire irreversible neurological deficits before they can respond, and relapses can occur unpredictably. However, knowledge of the pathophysiology of TTP has inspired new ways to prevent early deaths by targeting autoantibody production, replenishing ADAMTS13, and blocking microvascular thrombosis despite persistent ADAMTS13 deficiency. In addition, monitoring ADAMTS13 has the potential to identify patients who are at risk of relapse in time for preventive therapy.
Topics: ADAM Proteins; Humans; Platelet Adhesiveness; Purpura, Thrombotic Thrombocytopenic; Recurrence; Risk Factors; von Willebrand Factor
PubMed: 28768626
DOI: 10.1182/blood-2017-04-636431