Heavy chain disease: a rare case report of adult nephrotic syndrome

Abstract

Monoclonal immunoglobulin deposition disease is a systemic disorder characterized by the deposition of immunoglobulins as nonfibrillar material in various organs. Three subtypes have been reported: light chain deposition disease, light and heavy chain deposition disease and heavy chain deposition disease. Among these, light chain deposition disease is the most prevalent. Reports of light and heavy chain and heavy chain disease are rare, with fewer than two dozen documented cases in the world literature and very few from India. Heavy chain disease is characterized by glomerular, tubular, and vascular wall deposition of monoclonal heavy chains without associated light chains. We present the case of a 51-year man, who presented with a 3-month history of pedal edema, hypertension detected 3 months ago, and mild renal failure Estimated Glomerular filteration rate (eGFR) 66 ml/min/1.73 m2; histopathology showed heavy chain deposition disease. The case emphasizes the need for a thorough workup for plasma cell dyscrasias when we see membranoproliferative pattern in adult patients. This patient was treated with bortezomib-based regimen and after 3 months achieved near-complete remission of proteinuria with improvement in serum creatinine.