SP039ACUTE INTERMITTENT PORPHYRIA IN ELDERLY UNDERGOING HEMODIALYSIS: RESOLUTION OF TETRAPLEGIA WITH SYSTEMIC HEMIN AND REHABILITATION

Abstract

INTRODUCTION AND AIMS: Porphyrias are inherited defects in the biosynthesis of heme. Attacks in Acute Intermittent Porphyria are characterized by abdominal pain, neurological disturbances and psychiatric disorders and, in severe cases, they may lead to respiratory paralysis and coma. Five-year mortality rate is 20-25%, mostly in young adults especially females; rare in children and after the fifth decade. Patients have renal colic-like pain with pallor, nausea, vomiting, fever, acute urinary retention and hyperchromic urine emission. Renal involvement is represented by hyponatremia, urinary retention, tubulo-interstitial nephropathy, hypertension and Chronic Kidney Disease. METHODS: A 68-year-old women, undergoing hemodialysis three times a week since January 2011 for undiagnosed nephropathy, has been diagnosed with AIP through biomolecular analysis done as family screening. In September 2013, she was admitted to the Nephrology Unit for abdominal pain, constipation and uncontrolled hypertension. Since she had no diuresis, plasma porphyrins were measured at 619 nm. The patient reported depression and progressive muscle weakness in legs and then even in arms, defining a medical case of flaccid tetraparesis. Supposing she had poliradicolonevrite, a lumbar puncture was made and it was negative. Two days later, she was given Hemin (Normosang®), at a dose of 3 mg/kg/24h for 4 straight days, and then twice a week for the following 2 months, during which she was moved to the Rehabilitation Medicine Unit where she started a rehabilitation plan. Functional evaluation was assessed by Barthel Scale (values from 0 to 100), while muscular strength of involved paretic muscles was assessed by Medical Research Council scale (MRC) (values from 0 to 60: 0-5 for muscle bundle for 3 muscle groups for the 4 limbs respectively, at admission, 2, 4 weeks and at discharge. The patient underwent rehabilitation including electrical stimulation and occupational therapy. RESULTS: At admission, BS score was 25 indicating severe disability. Likewise, neurological picture showed severe impairment of strength characterized by tetraplegia. MRC score was 0 either both upper and lower limbs After hemin administration and rehabilitation treatment, muscular deficit progressively improved and MRC scores were 24, 36 and 50 at 2, 4 weeks and at discharge, respectively. Likewise, good functional outcome was also observed as BS scores were 25, 45, 65 and 90 at 2, 4 weeks and at discharge, respectively CONCLUSIONS: After 40 months the patient has no more abdominal pain and constipation. Blood pressure, motor skills and muscle strength are back to normal values, after mild weakness. Currently the patient is taking hemin every 4 months and, most likely, given her good health state, will be given hemin every six months until total discontinuation. The patient will keep on following a normocaloric, hyperglucidic diet with maltodestrins.