Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India.

INTRODUCTION

Acute intermittent porphyria (AIP) is an inherited metabolic disease characterized by disordered heme biosynthesis. There is no recent study reported from India.

MATERIALS AND METHODS

It was a retrospective, observational study. Clinical records of patients of AIP with acute porphyric attacks admitted from April 2008 to December 2016 were analyzed.

RESULTS

Fifteen AIP patients constituted of eight females and seven males were analyzed. Mean age at presentation was 34.33 ± 15.86 years. Thirteen patients (86.67%) had acute flaccid paralysis (AFP). All of them had peripheral neuropathy. These patients concomitantly had abdominal pain, seizure, encephalopathy, autonomic hyperactivity, history of passage of dark urine, and electrolyte abnormality (hyponatremia) in various combinations. Abdominal pain was the presenting symptom in 11 (73.33%) patients. Seven (46.67%) patients had seizure episodes. Five patients (33.33%) had hyponatremia at presentation. Significantly higher percentage of them had seizure at presentation or during hospital stay ( = 0.007). These patients also had evidence of autonomic hyperactivity in the form of higher pulse rate, systolic and diastolic blood pressure at presentation. They had prolonged duration of hospital stay as well ( = 0.016). Eleven patients had partial recovery and rest four patients (26.67%) had in-hospital mortality.

CONCLUSION

Patients had severe neurological involvement manifesting mainly as AFP and seizure episodes. We recommend screening for AIP in patients presenting with features of AFP along with any combination of clinical/laboratory manifestations such as abdominal pain, seizure, encephalopathy, autonomic hyperactivity, passage of dark urine, and hyponatremia. Electrolyte abnormality in the form of hyponatremia was an important severity marker.