ABSTRACT
PURPOSE: An atypical case of late-onset lattice corneal dystrophy is described in a 61-year-old man without a family history of eye disease. Mutational analysis of the TGFBI gene excluded any pathogenic sequence variants. However, 2 years later, renal impairment and nephrotic syndrome were diagnosed, resulting in a diagnosis of systemic heavy-chain amyloidosis. METHODS: Slit-lamp examination, corneal photography, and in vivo confocal microscopy were performed. General systemic evaluation included blood and urine assessment, bone marrow and renal biopsies, and cardiologic evaluation. A DNA sample underwent initial mutational analysis of TGFBI and, subsequently, gelsolin. The renal biopsy sample was subject to direct protein sequencing by mass spectrometry. RESULTS: A bilateral, atypical, fine, midperipheral lattice corneal dystrophy with minor central subepithelial scarring was clinically characterized. Subsequently, abnormal renal functions with proteinuria, IgG lambda paraproteinemia, extensive deposition of amyloid in renal glomeruli, and increased plasma cells in bone marrow were identified. No pathogenic sequence mutations were identified in TGFBI or the gelsolin genes. Direct protein sequencing by mass spectrometry showed amyloid to be heavy-chain deposition rather than the more usual light-chain deposition. CONCLUSIONS: Atypical midperipheral lattice corneal dystrophy presenting with adult onset and negative family history should arouse suspicion for an association with paraproteinemias or amyloidosis. Exclusion of TGFBI mutations should alert the clinician to the possibility of potentially life-threatening conditions, with referral for careful systemic evaluation.
Subject(s)
Amyloid/metabolism , Amyloidosis/diagnosis , Corneal Dystrophies, Hereditary/diagnosis , Extracellular Matrix Proteins/genetics , Gelsolin/genetics , Immunoglobulin Heavy Chains/immunology , Nephrotic Syndrome/diagnosis , Paraproteinemias/diagnosis , Transforming Growth Factor beta/genetics , Amyloidosis/drug therapy , Amyloidosis/genetics , Amyloidosis/immunology , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Boronic Acids/administration & dosage , Bortezomib , Corneal Dystrophies, Hereditary/drug therapy , Corneal Dystrophies, Hereditary/genetics , Corneal Dystrophies, Hereditary/immunology , DNA Mutational Analysis , Dexamethasone/therapeutic use , Glucocorticoids/therapeutic use , Humans , Male , Mass Spectrometry , Melphalan/administration & dosage , Microscopy, Confocal , Middle Aged , Mutation , Nephrotic Syndrome/drug therapy , Nephrotic Syndrome/genetics , Nephrotic Syndrome/immunology , Paraproteinemias/drug therapy , Paraproteinemias/immunology , Pyrazines/administration & dosage , Sequence Analysis, ProteinABSTRACT
A case of ST-elevation myocardial infarction as the first presentation of polycythaemia vera is described. The discussion summarises the evidence for the safety and efficacy of contemporary ST-elevation treatment strategies in the setting of polycythaemia vera.
