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Reportedly, less than 5% of all TTP cases are due to Upshaw–Schulman syndrome. [21] People with this syndrome generally have 5–10% of normal ADAMTS-13 activity. [22] [23] A 2024 study suggested that hereditary TTP is underdiagnosed and should be considered in cases of unexplained stroke, neonatal jaundice, and severe pre-eclampsia. [24]
Diagnosis is done by the help of symptoms and only blood count abnormality is thrombocytopenia. [citation needed] Treatment. This section is empty.
Purpura fulminans is a presenting feature of severe acute sepsis, such as Neisseria meningitidis, Streptococcus pneumoniae, Group A and B Streptococci, and less commonly with Haemophilus influenzae, Staphylococcus aureus, Capnocytophaga canimorsus [8] or Plasmodium falciparum (malaria) infections, particularly in individuals with asplenia. [2]
The severity of thrombocytopenia may be correlated with pathogen type; some research indicates that the most severe cases are related to fungal or Gram-negative bacterial infection. [37] The pathogen may be transmitted during [ 39 ] or before birth, by breast feeding , [ 40 ] [ 41 ] [ 42 ] or during transfusion. [ 43 ]
ITP can be difficult to distinguish from gestational thrombocytopenia (which is by far the most common cause of thrombocytopenia in pregnancy). Unlike ITP, the platelet count in gestational thrombocytopenia rarely goes below 100,000, and a platelet count below 80,000 is even more rare (seen in less than 0.1% of cases of gestational ...
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. [4] CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase.
Wiskott–Aldrich syndrome is a condition with variable expressivity, meaning that even within the same family some may exhibit only chronic thrombocytopenia while others experience severe, life-threatening complications of Wiskott–Aldrich syndrome in infancy or childhood.
Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle myosin. This disease affects the patient's renal system and can result in kidney failure . Epstein syndrome was first discovered in 1972 when two families had similar symptoms to Alport syndrome . [ 1 ]