E0486 - The Prevalence and Patient Characteristics of Hepatic Porphyria: A National Database Study

Tuesday, October 25, 2022

3:00 PM – 5:00 PM ET

Location: Crown Ballroom

Has Audio

Presenting Author(s)

Prabhat Kumar, MD

Cleveland Clinic Foundation
Cleveland, OH

Khaled Alsabbagh Alchirazi, MD¹, Prabhat Kumar, MD², Thabet Qapaja, MD¹, Osama Abu-Shawer, MD, MS¹, Sobia Laique, MD¹, Omar Massoud, MD¹
¹Cleveland Clinic, Cleveland, OH; ²Cleveland Clinic Foundation, Cleveland, OH

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.

Variables	Hepatic porphyria (n, %)	Non- Hepatic porphyria (n, %)	OR	CI	p-value
Demographics
>65	670 (45%)	21,252,540 (0.3%)	1.91	1.73-2.11	< 0.0001
Caucasian	1,260 (85%)	37,846,710 (0.5%)	4.92	4.27-5.68	< 0.0001
Male	830 (56%)	31,417,300 (0.5%)	1.58	1.43-1.76	< 0.0001
Symptoms & Conditions
Severe abdominal pain	570 (39%)	9,662,680 (0.1%)	3.94	3.54-4.37	< 0.0001
Acute polyneuropathy	180 (12%)	1,231,180 (0.02%)	7.78	6.65-9.09	< 0.0001
Seizures	80 (5%)	773,020 (0.01%)	5.15	4.11-6.45	< 0.0001
Hyponatremia	10 (1%)	96,790 (0.001%)	4.94	2.65-9.20	< 0.0001
Chronic liver disease	460 (31%)	904,290 (0.01%)	34.65	31.03-38.68	< 0.0001
Liver transplantation	20 (1%)	41,800 (0.001%)	23.05	14.82-35.84	< 0.0001
CKD	250 (17%)	2,302,560 (0.03%)	6.01	5.25-6.88	< 0.0001
HTN	270 (18%)	3,500,580 (0.1%)	4.26	3.74-4.86	< 0.0001
HCC	20 (1%)	25,530 (0.004%)	37.75	24.28-58.69	< 0.0001

Table: Table 1: A comparison of the baseline characteristics and GI manifestation of patients with and without Hepatic Porphyria. Univariate analysis used to calculate OR.

Disclosures:

Khaled Alsabbagh Alchirazi indicated no relevant financial relationships.

Prabhat Kumar indicated no relevant financial relationships.

Thabet Qapaja indicated no relevant financial relationships.

Osama Abu-Shawer indicated no relevant financial relationships.

Sobia Laique indicated no relevant financial relationships.

Omar Massoud indicated no relevant financial relationships.

Khaled Alsabbagh Alchirazi, MD¹, Prabhat Kumar, MD², Thabet Qapaja, MD¹, Osama Abu-Shawer, MD, MS¹, Sobia Laique, MD¹, Omar Massoud, MD¹. E0486 - The Prevalence and Patient Characteristics of Hepatic Porphyria: A National Database Study, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.