Krutika Lakhoo, MD1, Christopher Almario, MD, MSHPM1, John J. Ko, PharmD, MBA2, Alex Wei, PharmD2, Stephen Meninger, PharmD2, Brennan Spiegel, MD, MSHS, FACG1
1Cedars-Sinai Medical Center, Los Angeles, CA; 2Alnylam Pharmaceuticals, Cambridge, MA
Introduction: Acute hepatic porphyria (AHP), a family of rare genetic disorders, can present with life-threatening attacks with a predominant symptom of abdominal pain. Literature states that patients with AHP have been misdiagnosed with other conditions such as irritable bowel syndrome, functional abdominal pain, and endometriosis, among others. We aimed to determine the prevalence and predictors of symptom complexes commonly seen in AHP among community-dwelling adults in the US
Methods: We partnered with Cint, an online survey research firm, to recruit a representative sample of US adults aged ≥18y with abdominal pain. We asked if they had recurrent episodes of excruciating belly pain lasting ≥1 day with any of these co-occurring symptoms: urine color change to dark red/brown; skin blisters on sun-exposed areas; peripheral (e.g., muscle weakness, extremity pain), central (e.g., depression, seizures), or autonomic (e.g., tachycardia, hypertension) nervous system manifestations. Multivariable logistic regression models were used to adjust for confounding
Results: 24,932 individuals accessed the survey, with 10,300 (41.3%) reporting abdominal pain (Table 1). Of those with abdominal pain, 23.4% had symptoms consistent with AHP (≥2 episodes of excruciating abdominal pain and ≥2 concomitant symptoms). Those with AHP-like symptoms experienced the following: autonomic (97.7%), central (96.5%), and peripheral (58.8%) nervous system manifestations; urine color change (21.9%); and skin blisters (6.6%). Most (90.9%) sought medical care for their symptoms: emergency room (57.6%), doctor’s office (52.1%); urgent care facility (29.4%); clinic/health center (19.1%); hospital admission (18.4%). Table 2 shows results of the regression analysis on presence of AHP-like symptoms. Younger individuals, Latinos, those who identified as other race, and those with a usual source of care, comorbidities, lower locus of control, more severe pain, and worse physical health were more likely to have AHP-like symptoms
Discussion: In this population-based survey, 1 of 4 individuals with prior abdominal pain had symptoms consistent with AHP manifestations. Although AHP prevalence is very low, clinicians should ask those experiencing multiple episodes of severe abdominal pain about concomitant neurologic, psychiatric, skin, and urologic symptoms. This practice may prompt earlier testing for AHP, decreasing the delay to diagnosis and improving outcomes
Citation: Krutika Lakhoo, MD; Christopher Almario, MD, MSHPM; John J. Ko, PharmD, MBA; Alex Wei, PharmD; Stephen Meninger, PharmD; Brennan Spiegel, MD, MSHS, FACG. P0351 - PREVALENCE AND PREDICTORS OF SYMPTOM COMPLEXES COMMONLY SEEN IN ACUTE HEPATIC PORPHYRIA IN THE GENERAL POPULATION. Program No. P0351. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.