Woman’s long journey to diagnosis highlights inequalities in AIP care
Report details limited clinician awareness, lack of testing in case in India
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The experiences of a woman in India with acute intermittent porphyria (AIP) who endured years of symptoms and multiple hospitalizations before ultimately getting a correct diagnosis illustrate the global problem of inequality in AIP care, according to a new report by researchers in the Asian nation.
The scientists highlighted that the woman’s sporadic, yet recurring symptoms were highly indicative of AIP. Yet her condition was not recognized, and in fact misdiagnosed, the team concluded, in large part because her doctors did not have access to the best possible diagnostic technology.
“This case demonstrates that delayed diagnosis of AIP in [low- and middle-income countries] is rarely due to atypical clinical presentation. Instead, it reflects systemic barriers including limited clinician awareness, overreliance on insensitive qualitative screening tests, lack of standardized laboratory infrastructure, fragmented care pathways, and restricted access to definitive therapies,” the researchers wrote.
For patients, this often means a long diagnostic odyssey. For clinicians, it shows the challenges of AIP management in lower-income countries. In both regards, action is needed, according to the scientists.
“Strengthening clinician education, emphasizing repeat quantitative testing during acute episodes, and improving access to essential treatments could substantially reduce diagnostic [delay] and improve outcomes for patients with porphyria in resource-limited settings,” the researchers wrote.
The study, “Acute intermittent porphyria in a resource-limited setting: diagnostic pitfalls and emerging therapeutic perspectives,” was published in the Journal of Rare Diseases.
A genetic disorder, AIP is caused by mutations in the HMBS gene. These mutations cause certain molecules, such as porphobilinogen (PBG), to accumulate to toxic levels in the body, ultimately driving disease symptoms. A characteristic sign of the disease is elevated levels of PBG in the urine, which causes the urine to change color upon exposure to sunlight.
Woman experienced typical AIP symptoms for years
In wealthy countries, PBG testing for AIP is commonly performed using an objective test that quantifies the levels of the disease-associated molecule. But in resource-limited settings, like India, clinicians often rely on a cheaper colorimetric assay — that is, a test that changes color based on PBC levels.
Although it’s easier to access, the researchers noted that this test “is known to have limited sensitivity, particularly when samples are not obtained or processed under optimal conditions.”
The woman in this report had been experiencing symptoms typical of AIP for several years. About every other month, she would experience episodes of severe abdominal pain, nausea, and vomiting that would last for several days. The symptoms were often accompanied by constipation, high blood pressure, and low sodium levels.
Between these episodes, she didn’t have noteworthy symptoms — a pattern of severe attacks interspersing periods of no symptoms that is typical in AIP.
In 2025, the woman was hospitalized due to one of these episodes. At that time, PBG testing was performed using the color-changing test, but the results were reported to be negative. The woman was given supportive care and discharged from the hospital.
However, soon after, she was hospitalized again, this time at the researchers’ center in Jodhpur.
Delayed AIP diagnosis ‘highlights global inequities in care’
The team, at the All India Institute of Medical Sciences, recognized that the woman’s symptoms resembled AIP, so they again ordered PBG testing using the color-changing test. Again, however, the result was negative.
Still, because the patient’s symptoms so closely resembled AIP, her doctors were strongly suspicious that the test might be giving them a false-negative result.
Building off this suspicion, the team collected fresh urine from the patient and deliberately exposed it to sunlight over the course of several hours. The urine darkened, as is typical of AIP, with the researchers noting that “progressive darkening was noted after two hours, turning brownish-black by four hours.”
This case highlights the importance of clinical vigilance in diagnosing AIP, particularly in [low- and middle-income countries] where laboratory and therapeutic resources are constrained.
Their observations prompted the doctors to order repeat testing of PBG, this time with careful precautions in place: The team collected urine during the acute phase of disease and immediately protected it from light. They then sent the urine for the more expensive testing that measures exact PBG levels.
This testing revealed levels well outside the normal range, according to the scientists. Genetic sequencing then identified a mutation in the HMBSÂ gene, cementing a diagnosis of AIP.
“This case highlights the importance of clinical vigilance in diagnosing AIP, particularly in [low- and middle-income countries] where laboratory and therapeutic resources are constrained,” the researchers wrote.
The team noted that in this case “overreliance on single negative investigations … led to delayed recognition. Bedside observations such as urine discoloration, coupled with persistence in repeating biochemical tests, were key to establishing the diagnosis.”
Following that ultimately correct diagnosis, the woman was started on carbohydrate supplements and supportive care, and given education on how to avoid potential AIP triggers.
The researchers noted that medications approved for AIP in the U.S. were not available in this resource-limited setting, writing that, “management of AIP further highlights global inequities in care.” But even without disease-specific medication, on follow-up, the patient said that she was experiencing far fewer attacks and reported that her overall well-being had improved.
