Introduction: Hepatic porphyria (HP) is a relatively rare clinical entity that could be a hereditary or acquired condition of defective heme synthesis that lead to the accumulation of heme precursors. Patients with acute HP exhibit episodic symptoms, including severe abdominal, neurologic, psychiatric, or cardiovascular symptoms. Often intensive care is required to treat attacks; hence, early detection and awareness of the prevalence are of dire importance. Our study aimed to assess the prevalence and GI manifestation of HP in the US cohort.
Methods: A large multi-center database (Explorys Inc., Cleveland, OH, USA) of aggregated electronic health records of 26 different healthcare systems with 360 hospitals. The database covers ~25% of the US population. A cohort of patients with a SNOMED-CT diagnosis of “Hepatic porphyria” between 1999 to 2022 was identified. Subsequently, two sub-cohorts of patients were identified: those diagnosed with HP and those who were not.
Results: Among the 70,376,230 individuals screened in this database, there were a total of 1,480 individuals diagnosed with HP—a prevalence rate of 0.21 per 100,000 in the US population. In contrast to those without, patients who were diagnosed with HP tended to be older >65 (OR 1.91), predominantly of Caucasian (OR 4.92) race and to be males (OR 1.58). In terms of neurological manifestations, population with HP was more prone to develop seizures (OR 5.15), hyponatremia (OR 4.94), and acute polyneuropathy (OR 7.78). In addition, the HP cohort was more likely to develop hypertension (OR 4.26), chronic liver disease (CLD) (OR 34.65), hepatocellular carcinoma (HCC) (OR 37.75), and chronic kidney disease (CKD) (OR 6.01) (table 1).
Discussion: This is one of the largest population-based studies, which entails comparative data for GI manifestation of HP in the US population. HP patients have a greater risk of developing liver disease, including CLD and HCC; hence a special focus should be provided for patients who develop GI manifestation.
