Early Physiotherapy Intervention of a Patient with Acute Intermittent Porphyria-A Single Case Study

Abstract

Background: The Porphyrias are metabolic disorders, each resulting from the deficiency of a specific enzymein the heme biosynthetic pathway. Acute intermittent porphyria (AIP) is an autosomal dominant inbornerror characterized by decreased activity of porphobilinogen (PBG) deaminase leading to increased levelsof haem precursors, namely amino levulinic acid (ALA) and PBG. The major manifestations of theacutehepatic porphyrias are neurologic- neuropathic abdominal pain, peripheral motor neuropathy, and mentaldisturbanceswith attacks often precipitated by steroid, hormones, certain drugs, and nutrition influences.Purpose: Intensive care measures and a multidisciplinary therapeutic approach are essentialbut thereis lessdocumented evidence are available.If this aspect is incorporated early in the rehabilitation programme, thenthe functional recovery in such will be better.so the aim of the study is to find how Early Physiotherapyintervention using Comprehensive need based Approach to improve the functional status of porphyriapatient.Key Points of Case: A 17 years old male patient wasdiagnosed with acute intermittent Porphyria. Havingthe history of abdominal pain since last 3 months with family history of AIP which was diagnosed very late.A detailed Physical and Neurological examination of this patient was taken. Along with medical treatment,early physiotherapy intervention using comprehensive need base approach was being given to the patient.The Barthel Index was taken to assess the functional status of the patient and Berg Balance Scale was takento assess balance on admission and subsequent follow-ups. Post-intervention follow-ups were taken at 6weeks and 12 weeks period.Conclusion: A clinically significant improvement was found on Barthel Index and Berg Balance Scale.Early Physiotherapy intervention using a Comprehensive need based Approach is highly recommended toimprove the functional status of a patient with porphyria