This article is more than 5 years old. Information may no longer be current.

Study quantifies natural history of recurrent acute hepatic porphyria attacks

Results from the EXPLORE prospective natural history study designed to characterize disease activity and clinical management in patients with acute hepatic porphyria, or AHP, who experience recurrent attacks showed that attacks often required treatment in health care facilities and influenced day-to-day functioning.

“Given the rarity of the disease and the nonspecific constellation of signs and symptoms, patients typically experience substantial delays in diagnosis,” Laurent Gouya, MD, PhD, from the Louis-Mourier Hospital in Colombes, France, and colleagues wrote. “This is of concern as patients may experience worsening disease manifestations while undergoing diagnostic testing or treatment for an incorrect diagnosis. Attacks that are not treated promptly can lead to severe neurologic damage, require prolonged periods of recovery or, in some cases, are fatal.”

Gouya and colleagues enrolled 112 patients between September 2014 and November 2016 who experienced three or more porphyria-related attacks within 12 months before baseline (range, 0-52), 32% of whom experienced more than 10 attacks. The most common attacks included pain in the abdomen, arms, legs or back (99%); nausea (85%); and change in urine color (81%).

During the study, 98 patients experienced a total of 483 attacks. Of these, 371 attacks required treatment at a health care facility, hemin administration (69%), or opioid administration (54%).

“Overall, patients with AHP experiencing recurrent attacks had low [quality of life] at baseline and throughout the study,” the researchers wrote.

Mean EQ-5D-5L Index Scores at baseline were 0.78 in a patient population with a median age of 38 years and 0.92 in the European population for those aged 35 years to 44 years. Self-rated health status visual analog scale was 66 at baseline and remained stable during the study. The dimensions most affected by AHP included pain and discomfort (64%), anxiety and depression (51%) and ability to perform usual activities (51%).

“Unique to this study was the high percentage of patients reporting a change in urine color, trouble sleeping, and problems with mental function (potentially due to effects on the central nervous system) during attacks,” Gouya and colleagues wrote. “Such information is central to understanding the disease manifestations, as well as for assessing the need for and evaluation of the benefits and risks of potential new therapies.” – by Talitha Bennett

Disclosures: Healio Gastroenterology and Liver Disease was unable to determine relevant financial disclosures at the time of publication.