Autoantibodies targeted at different antigenic determinants on red cells and platelets are assumed to cause isolated episodes of hemolytic anemia and thrombocytopenia, respectively. Diagnosis
Diagnosis of Evans syndrome is separated into primary and secondary presentation. There is no single test to confirm a diagnosis of either form of Evans syndrome. It is instead a diagnosis made after a thorough clinical history, documentation of common symptoms, clinical evaluation, and exclusion of all other possible conditions.The diagnosis of primary Evans syndrome is made upon blood tests to confirm not only hemolytic anemia and immune thrombocytopenic purpura, but also a positive direct antiglobulin test (DAT) and an absence of any known underlying cause. Additional tests used to eliminate the possibility of other conditions include a computed tomography (CT) scan and a biopsy of bone marrow.A diagnosis of secondary Evans syndrome is indicative of occurrence after another autoimmune disease is already present. In 27% to 50% of cases there is an associated malignancy or a predisposing autoimmune disease. Pre-existing autoimmune diseases can include autoimmune lymphoproliferative syndrome (ALPS), combined variable immunodeficiency (CVID), systemic autoimmune disease, or another disorder of immune dysregulation.Other antibodies may occur directed against neutrophils and lymphocytes, and "immunopancytopenia" has been suggested as an alternative term for this syndrome. Treatment
Initial treatment is with glucocorticoid corticosteroids or intravenous immunoglobulin, a treatment that is also used in ITP cases. In children, it can remain well controlled with a long term immunosuppressant therapy that will occasionally lead to a spontaneous complete resolution of the condition.
Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967. Excessive bone formation is most prominent in the skull, mandible and tubular bones. It can cause facial distortion and syndactyly. Increased intracranial pressure can cause sudden death in patients. It is a rare disorder that is most prominent in the Afrikaner population in South Africa (40 patients), but there have also been cases of American and Brazilian families. Cause
Sclerosteosis is caused by mutations in the gene that encode for the sclerostin protein. The sclerostin protein is necessary in inhibiting canonical wnt signalling. Wnt signalling results in increased osteoblast activity and RANKL synthesis, sclerostine therefore increases boneformation by indirectly inhibiting RANKL synthesis and thus osteoclast activitation. References
External links
These Superhumans Are Real and Their DNA Could Be Worth Billions
Sclerostin Inhibition in the Management of Osteoporosis
Effect of bone thickening on the skull area: need of skull removal