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A genetic disorder affecting mostly adults and
associated with pregnancy, HIV, cancer, bacterial infection, and vasculitis.
Has also been observed after bone marrow transplantation. Clinical features
include seizure, hemiplegia, fatigue, abdominal pain, arthralgias,
neurological deficit, and renal insufficiency. Idiopathic presentation with
a 60% female preponderance.
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Moschowitz Syndrome; Thrombotic Microangiopathic
Hemolytic Anemia.
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First described by Eli Moschcowitz, American pathologist
in 1924.
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More than 75 years ago, the occurrence was 1/1,000,000
in general population. However, the incidence seems to have increased.
Ten years ago, the rate was reported at 3.7 cases per 1 million patients.
However, the incidence today is much higher because of greater awareness and
increasing reports of TTP secondary to other illnesses and drugs.
One
report indicated a case rate of 1:6000 hospital admissions. The mortality
rate was 100% until 1980, but a major drop has been observed with early
diagnosis and improvement in therapy with plasma exchange. Untreated,
mortality remains high at 95%, whereas survival is 90% if treated.
Approximately 60% of patients are female. The female-to-male ratio is 3:2.
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Most familial cases are recessive but dominant
pedigrees have also been reported. The phenotypes might be identical but
mutations in the ADAMTS13 gene are involved for Moschowitz disease; the locus
is at 9q34.
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Characterized by microangiopathic hemolysis and
idiopathic platelet aggregation/hyaline thrombi leading to diffuse
thrombosis of small blood vessels, with organ ischemia and microangiopathic
hemolytic anemia. Platelet transfusion can actually cause deterioration
secondary to increased activation and deposition. The thrombi partially
occlude the vascular lumina with overlying proliferative endothelial cells.
The endothelia of the kidneys and brain are particularly vulnerable to TTP.
However, the lungs and liver are affected to a lesser extent. The
megakaryocytes and endothelial cells produce and release the ultra-large von
Willebrand factor multimer, which favors binding to platelets in the
microcirculation. Treatment includes plasmapheresis, which either removes a
platelet activator or adds an inhibitor, and immunosuppression. Splenectomy
follows failure of medical therapy.
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Based on clinical and laboratory findings, including the
hemolytic anemia, consumptive thrombocytopenia, central nervous system (CNS) dysfunction,
and petechiae.
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Peak prevalence in third decade of life,
hemolytic anemia, consumptive thrombocytopenia, central nervous system (CNS) dysfunction,
and petechiae. Seizure activity (16%), hemiplegia (12%), and paresthesias have been
reported. Also the possibility of heart failure and arrhythmias must be borne in mind.
Twenty-five percent of patients present with abdominal pain due to gastrointestinal
ischemia.
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The heterogenicity of the
patients-adults and children-renders the evaluation difficult. Obtain a full
history of the concomitant illnesses (if any) and assess thoroughly the
involvement of the kidneys and the CNS. The severity of the infection
associated (if any) must be known. Aseptic technique, especially with
immunosuppression. Supplemental steroids as needed. Check baseline renal and
CNS function and obtain a complete cell blood count. Myopathy/neurotoxicity is
possible with vincristine therapy.
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Postpone elective surgery until patient
is in remission. Avoid ...