Patient is a 45-year-old male presenting with an acute onset of pain that began in his legs and has since spread to his lower back. The pain is rated 9/10 and described as deep, throbbing, and constant. He has had several similar episodes in the past year, usually following dehydration or infection. He denies trauma. Questions – • Which genetic mutations are commonly associated with the disease? • Why is the patient presenting with the specific symptoms described? • Discuss the pathophysiological mechanisms of the disease in detail. • What do the blood test results tell us about the disease and disease progression?

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