Thrombotic microangiopathy

Thrombotic microangiopathy (TMA) groups together a number of rare pathologies characterised by mechanical hemolytic anemia (associated with fragments of red blood cells or schizocytes), peripheral thrombocytopenia where the cells are consumed more quickly than they are created, or organ failure of varying degrees of severity. TMA are serious diseases which can be immediately life-threatening. If effective treatment is administered, however, the prognosis can be excellent. It is, therefore, necessary, to know how to recognise these diseases to quickly come up with a diagnosis, and to start suitable treatment as a matter of urgency. These main pathologies are idiopathic thrombocytopenic purpura (ITP) (or Moschcowitz syndrome) and the hemolytic-uremic syndrome (HUS), as well as HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count) syndrome. A TMA syndrome can also be observed in various tumoral pathologies, an HIV infection, hematopoietic stem cell implant, malignant arterial hypertension (HT), or associated with certain kinds of drug (clopidogrel, antineoplastic drugs, anti-VEGF antibodies [vascular-endothelium growth factor]).

ORPHA93573 – Thrombotic microangiopathy
ORPHA536 – Systemic lupus erythematosus
ORPHA2134 – Atypical hemolytic-uremic syndrome (atypical HUS)
ORPHA93575 – Atypical hemolytic-uremic syndrome with C3 anomaly
ORPHA93576 – Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
ORPHA93578 – Atypical hemolytic-uremic syndrome with B factor anomaly
ORPHA93579 – Atypical hemolytic-uremic syndrome with H factor anomaly
ORPHA93580 – Atypical hemolytic-uremic syndrome with I factor anomaly
ORPHA93581 – Atypical hemolytic-uremic syndrome with anti-factor H antibodies
ORPHA217023 – Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
ORPHA357008 – Atypical hemolytic-uremic syndrome with DGKE deficiency
ORPHA2170 – Methylcobalamin deficiency type cblG
ORPHA54057 – Thrombotic thrombocytopenic purpura
ORPHA93583 – Congenital thrombotic thrombocytopenic purpura
ORPHA93585 – Acquired thrombotic thrombocytopenic purpura
ORPHA90038 – Typical hemolytic-uremic syndrome (typical HUS)
ORPHA93552 – Pediatric systemic lupus erythematosus

Patients’association :

Patients’association ADAMTS13