Screening for Fabry disease in patients on Hemodialysis.

Background: Fabry disease is an under-recognized X-linked lysosomal storage disorder characterized by the accumulation of trihexosylceramides in multifarious tissues, leading to end-organ damage, including progressive renal failure. Antecedent screening studies worldwide have shown inconsistent prevalence in the hemodialysis population. We conducted this study to screen for Fabry disease in patients undergoing dialysis at a tertiary care hospital.

Catastrophic Antiphospholipid Syndrome in Immune Thrombocytopenic Purpura - Beyond Tenuous Concomitance!

Significance of antiphospholipid antibodies in immune thrombocytopenic purpura is debatable and pose a diagnostic and therapeutic dilemma. Catastrophic antiphospholipid syndrome is a rare life-threatening entity, occurring in patients with antiphospholipid syndrome, usually after a triggering event. We describe an adult lady of chronic immune thrombocytopenic purpura (in remission) with antiphospholipid antibodies, who presented with rapidly progressive renal failure and had primary antiphospholipid syndrome nephropathy.