Multiple myeloma with crystal-storing histiocytosis, crystalline podocytopathy, and light chain proximal tubulopathy, revealed by retinal abnormalities

Abstract

Rationale:Crystal sorting histiocytosis (CSH) is a rare disorder that is morphologically characterized by the accumulation of monoclonal immunoglobulin crystals, predominantly of a kappa light chain type, within lysosomes of macrophages. CSH may result in a variety of clinical manifestations depending on the involved organs. In this case report, we aim to describe a patient with ophthalmic manifestations which lead to the diagnosis of multiple myeloma with crystal-storing histiocytosis, crystalline podocytopathy, and light chain proximal tubulopathy.Patient concerns:A 60-year-old male patient presented with progressive bilateral decreased vision for 2 years.Diagnosis:Ophthalmic explorations showed bilateral macular and papillary edema, and multiple crystalline deposits in the anterior stromal cornea and in the retina. Laboratory tests showed nephrotic syndrome and renal dysfunction. Further work-up revealed IgG kappa multiple myeloma, with biopsy-proven combined crystalline podocytopathy and tubulopathy.Interventions:The patient received chemotherapy (bortezomib, cyclophosphamide, and dexamethasone for 3 cycles, then bortezomib, lenalidomide, and dexamethasone).Outcomes:Despite partial hematologic response and improvement of the papilledema and macular edema, the patient developed dialysis-dependent end-stage renal failure.Lessons:This report, highlighting the protean presentation of paraprotein-mediated injuries, provides additional information on the ocular anomalies not previously described that may be associated with crystal-storing histiocytosis.

Crystalline deposits in the cornea and various areas of the kidney as symptoms of an underlying monoclonal gammopathy: a case report

“…This entity shows predominantly lambda light chain restriction [12]. Similar cases have already been described, some of which already fulfilled the criteria for MM or in which Fanconi syndrome was present [27,28]. FSGS reported in our case is a rare renal disorder in PCD.…”

“…Although considered secondary, clinical symptoms of FSGS with underlying PCD may vary: Our patient showed proteinuria in the sub-nephrotic range without edema or hypalbuminemia. In contrast, other cases have been reported in which a full nephrotic syndrome was evident with pronounced proteinuria, edema, and hypalbuminemia [ 28 – 31 ]. In summary, the clinical picture of FSGS associated with PCD shows a wide range from only moderate proteinuria to full nephrotic syndrome, which should always be taken into account in diagnosis.…”

Crystal-Induced Podocytopathy Producing Collapsing Focal Segmental Glomerulosclerosis in Monoclonal Gammopathy of Renal Significance: A Case Report

“…This prompted us to consider that collapsing FSGS manifestations were caused by the paraproteinemia itself, as no other causative factors were involved. Some studies have reported ultrastructural examination in favor of crystals coming from the urinary space after backflowing from the tubules because of proximal tubule obstruction by apoptotic epithelial cells 13 . Monoclonal proteins could be also endocytosed by podocytes and crystallize inside lysosomes, causing podocyte dysfunction due to accumulation of light chains.…”

A colonic mass revealing a disseminated crystal storing histiocytosis secondary to indolent multiple myeloma: a case report with literature review

“…CSH was diffuse and involved kidney (n = 2), bone marrow and spleen (n = 2), mesenteric panniculitis (n = 1), and lung (n = 1). Three patients had a MM [2,3,13] two a lymphoplasmacytic lymphoma [5,6] and one monoclonal gammopathy [7]. Light chain was always kappa (IgG [3], IgA [1], IgM [1] or LC only [1]).…”