This study’s objective was to follow AHP/AIP patients’ healthcare journeys from first suspected symptom to diagnosis.

Acute hepatic porphyrias (AHPs) are caused by genetic defects in hepatic heme biosynthesis; accumulation of neurotoxic intermediates causes potentially life-threatening, neurovisceral attacks. Acute intermittent porphyria (AIP) is the most common subtype. Patients commonly undergo prolonged periods of missed or incorrect diagnosis and inadvertently receive drugs known to provoke porphyria attacks.

126 patients were identified (63% female, mean age:47 years, and mean ObP:3.9 years). The most common symptom was abdominal pain (79.4%). Neurological symptoms preceding diagnosis included leg/arm pain (45.2%), seizures (12.7%), neuropathy (11.1%), and muscle weakness (10.3%). Patients had a mean of 1.1 AHP-like attacks/year requiring an inpatient (IP) admission or emergency department (ED) visit. Prescriptions drugs known to trigger attacks were observed in the week prior to ER visit and IP admissions in 38.0% and 23.4%, respectively. During the ObP, 34.1% saw a neurologist. Claims for neurological conditions included fibromyalgia (27.0%), neuropathy (24.6%), and epilepsy (11.9%).

Prior to diagnosis, patients exhibited symptoms commonly associated with AHP/AIP and high HCRU, including IP admissions and ED visits. Unsafe drug prescription claims often preceded these visits. Opportunity exists to improve recognition and treatment of AHP based on patient history of neurovisceral and other common symptoms.