A 44-year-old man has heat intolerance, burning pain, Skin Lesions, and proteinuria. Explore the diagnostic journey of this rare multi-system disorder.
A 44-year-old man presented with a 5-year history of heat intolerance and burning pain in his hands and feet. He also had exertional dyspnea, decreased perspiration, sinus tachycardia, and proteinuria of unclear cause. On physical examination, there were periumbilical vascular skin lesions that had been present for the previous 20 years. A sample from a 24-hour urine collection showed non-nephrotic proteinuria. What is the most likely diagnosis?
What is the most likely diagnosis?
Alpha-galactosidase A, Fabry’s disease, Lysosomal storage disease, Proteinuria, Zebra bodies
