| Thrombotic thrombocytopenic purpura | |
|---|---|
| Other names | Moschcowitz syndrome,[1] idiopathic thrombotic thrombocytopenic purpura[2] |
 | |
| Spontaneous bruising in a woman with critical low platelets | |
| Specialty | Hematology |
| Symptoms | Large bruises, fever, weakness, shortness of breath, confusion, headache[3][2] |
| Usual onset | Adulthood[3] |
| Causes | Unknown, bacterial infections, certain medications, autoimmune diseases, pregnancy[3] |
| Diagnostic method | Based on symptoms and blood tests[2] |
| Differential diagnosis | Hemolytic-uremic syndrome (HUS), atypical hemolytic uremic syndrome (aHUS)[4] |
| Treatment | Plasma exchange, immunosuppressants[1] |
| Prognosis | < 20% risk of death[1] |
| Frequency | 1 in 100,000 people[3] |
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in small blood vessels throughout the body.[2] This results in a low platelet count, low red blood cells due to their breakdown, and often kidney, heart, and brain dysfunction.[1] Symptoms may include large bruises, fever, weakness, shortness of breath, confusion, and headache.[2][3] Repeated episodes may occur.[3]
In about half of cases a trigger is identified, while in the remainder the cause remains unknown.[3] Known triggers include bacterial infections, certain medications, autoimmune diseases such as lupus, and pregnancy.[3] The underlying mechanism typically involves antibodies inhibiting the enzyme ADAMTS13.[1] This results in decreased break down of large multimers of von Willebrand factor (vWF) into smaller units.[1] Less commonly TTP is inherited from a person's parents, known as Upshaw–Schulman syndrome, such that ADAMTS13 dysfunction is present from birth.[5] Diagnosis is typically based on symptoms and blood tests.[2] It may be supported by measuring activity of or antibodies against ADAMTS13.[2]
With plasma exchange the risk of death has decreased from more than 90% to less than 20%.[1] Immunosuppressants, such as glucocorticoids, and rituximab may also be used.[3] Platelet transfusions are generally not recommended.[6]
About 1 per 100,000 people are affected.[3] Onset is typically in adulthood and women are more often affected.[3] About 10% of cases begin in childhood.[3] The condition was first described by Eli Moschcowitz in 1924.[3] The underlying mechanism was determined in the 1980s and 1990s.[3]
References edit
- ^ a b c d e f g Kremer Hovinga, JA; Coppo, P; Lämmle, B; Moake, JL; Miyata, T; Vanhoorelbeke, K (6 April 2017). "Thrombotic thrombocytopenic purpura". Nature Reviews. Disease Primers. 3: 17020. doi:10.1038/nrdp.2017.20. PMID 28382967. S2CID 11960153.
- ^ a b c d e f g "Thrombotic thrombocytopenic purpura, acquired". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on 20 October 2018. Retrieved 10 October 2018.
- ^ a b c d e f g h i j k l m n Joly, BS; Coppo, P; Veyradier, A (25 May 2017). "Thrombotic thrombocytopenic purpura". Blood. 129 (21): 2836–2846. doi:10.1182/blood-2016-10-709857. PMID 28416507.
- ^ George JN (November 2010). "How I treat patients with thrombotic thrombocytopenic purpura: 2010". Blood. 116 (20): 4060–9. doi:10.1182/blood-2010-07-271445. PMID 20686117.
- ^ Moake JL (2004). "von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura". Semin. Hematol. 41 (1): 4–14. doi:10.1053/j.seminhematol.2003.10.003. PMID 14727254.
- ^ Wood, Marie E.; Philips, George K. (2003). Hematology/oncology Secrets. Elsevier Health Sciences. p. 68. ISBN 978-1560535164. Archived from the original on 2021-08-29. Retrieved 2020-07-24.