Amid ‘Baffling’ Array of Symptoms, Porphyria Found in Teen in Nepal

Girl diagnosed with acute intermittent porphyria after range of other ills ruled out

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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The case of a teenager in Nepal who was diagnosed with porphyria following a detailed series of clinical tests — part of a “diagnostic conundrum” — was described in a recent report.

“This case highlights the baffling amalgamation of symptoms that simulate common diseases of concern yet are buried in the realm of porphyric disorders,” the researchers wrote, noting that “only a handful of porphyria cases have been reported in Nepal so far in the medical literature.”

The report, “Porphyria: a case report,” was published in the Journal of Medical Case Reports.

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Urine test, overall condition lead to acute intermittent porphyria diagnosis

Diagnosing porphyria can be a challenging process, commonly requiring extensive testing to rule out other conditions with similar symptoms. Testing for this rare metabolic disorder in a resource-limited country like Nepal, the scientists noted, can be especially “daunting.”

Researchers described the case of a 15-year-old Hindu Nepalese girl who came to their hospital’s emergency room after several days of severe abdominal pain, accompanied by other intermittent symptoms that included headache, nausea, vomiting, limb pain, and constipation. She also had seizure episodes.

She reported experiencing two similar episodes in the past, and was hospitalized for both of them. Laboratory workups during the attacks showed the patient had high blood pressure (hypertension) and low levels of sodium (hyponatremia) and magnesium (hypomagnesemia).

Based on initial findings, clinicians suspected Gitelman syndrome, a genetic condition that leads to impaired kidney function. However, metabolic tests to detect this syndrome came back negative. Additional tests meant to detect an autoimmune disease also came back negative.

The girl was given an antihypertensive medication called amlodipine, as well as polyethylene glycol to ease her constipation. Morphine was administered, but it generally was not effective at easing her pain.

She also was given salt replacement therapy with the aim of increasing her sodium levels, but it too did not help. This led researchers to suspect she might have unilateral renal artery stenosis, a condition in which blood vessels in the kidneys become narrowed. However, imaging tests of her kidneys came back normal, ruling out this potential diagnosis.

After discounting other disorders, clinicians began to suspect of porphyria. The Watson-Schwartz test, a screening urine test for porphyria, came back positive, indicating an acute porphyria attack.

Based on her clinical condition, the scientists suspected the patient specifically had acute intermittent porphyria (AIP), a form of porphyria caused by mutations in the HMBS gene. Genetic testing was not done due to financial constraints, but based on the strong clinical findings, the team concluded that AIP was the most likely diagnosis in her case.

“After a thorough investigation ruling out the differential diagnosis, a final diagnosis of acute intermittent porphyria was made based on laboratory findings,” the scientists wrote.

Her symptoms progressively eased with a diet of carbohydrate-rich foods. She also was kept on a high-sugar diet since hemin, which is sometimes used to prevent porphyria attacks, was unavailable due to its “high cost,” they noted.

Over time, her pain subsided, her blood pressure normalized, and her bowel habits improved. She did not show any symptoms on a subsequent follow-up visit, and she was counseled by physicians to avoid fasting.