Cerebellar Atrophy and Neurocognitive Disorder as Primary Presentation of Antiphospholipid Syndrome in a Young Male

Antiphospholipid syndrome (APS) is a multisystem autoimmunedisorder characterized by arterial or venous thrombosis and pregnancymorbidity in the presence of antiphospholipid antibodies(aPL).1 It can be primary or secondary. Primary antiphospholipid syndromeoccurs in the absence of any other related disease. Secondaryantiphospholipid syndrome occurs with other autoimmune diseases,such as systemic lupus erythematosus.The presence of aPL can be demonstrated in one of three ways:the presence of anticardiolipin antibodies (aCL), β 2-glycoprotein Iantibodies (GPI), or lupus anticoagulant antibodies (LA).1 To meetclassification criteria for antiphospholipid syndrome, patients shouldhave one clinical criterion, either vascular thrombosis (venous orarterial) or pregnancy morbidity (at least one fetal death or pretermdelivery or three or more unexplained, consecutive, spontaneouspregnancy losses) and one laboratory criterion, the presence of aPLantibodies need to be seen twice and at least 12 weeks apart for confirmation.Neurological manifestations are common in APS and areattributed mainly to vascular thrombosis and aPL-induced neuronaltissue injury. The most common neurological presentation is an ischemiccerebrovascular accident (CVA) or transient ischemic attack(TIA). However, clinical presentations including cognitive dysfunction,headaches, seizures, and psychosis may be atypical in some cases,which makes diagnosis more difficult.2In our case, a male patient initially presented with a neurocognitivedisorder, dementia, cerebral atrophy, and seizure of unknown etiology.A diagnosis of APS was made after a brain biopsy revealed microinfarctsand intimal fibrosis and an aPL antibody test was positive

Treatment of Atypical Hemolytic-Uremic Syndrome in the Era of Eculizumab

Abstract Hemolytic-uremic syndrome (HUS) is the triad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI); the main cause of multi-organ failure is related to thrombotic microangiopathy (TMA). Atypical HUS (aHUS) is a disease of uncontrolled complement activation associated with a high mortality rate and most cases progress to endstage renal disease. About 50% of patients with this syndrome carry mutations in genes that encode complement proteins. Also, aHUS constitutes an over-activation of the complement pathway which is either inherited, acquired, or both. This results in TMA. Plasma infusions or exchange should be performed daily until the platelet count, lactate dehydrogenase (LDH), and hemoglobin levels are substantially improved, or until an alternate treatment strategy has been decided upon. Eculizumab (a terminal complement inhibitor approved in 2011 for treating aHUS) treatment should begin immediately when the diagnosis is confirmed. There is limited evidence on the duration of the treatment despite significant clinical interest in investigating this aspect. Therefore, it is crucial to conduct further analysis on the possible dose and time adjustments

Treatment of Atypical Hemolytic-Uremic Syndrome in the Era of Eculizumab

Abstract Hemolytic-uremic syndrome (HUS) is the triad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI); the main cause of multi-organ failure is related to thrombotic microangiopathy (TMA). Atypical HUS (aHUS) is a disease of uncontrolled complement activation associated with a high mortality rate and most cases progress to endstage renal disease. About 50% of patients with this syndrome carry mutations in genes that encode complement proteins. Also, aHUS constitutes an over-activation of the complement pathway which is either inherited, acquired, or both. This results in TMA. Plasma infusions or exchange should be performed daily until the platelet count, lactate dehydrogenase (LDH), and hemoglobin levels are substantially improved, or until an alternate treatment strategy has been decided upon. Eculizumab (a terminal complement inhibitor approved in 2011 for treating aHUS) treatment should begin immediately when the diagnosis is confirmed. There is limited evidence on the duration of the treatment despite significant clinical interest in investigating this aspect. Therefore, it is crucial to conduct further analysis on the possible dose and time adjustments