When a 23-year-old woman, who was 6 weeks pregnant, first appeared at the doctor, she was presenting with non-specific symptoms: pale eyelids, abdominal pain, intermittent cramping, and generalized arm and leg weakness. At first, doctors were stumped; her tests kept coming back “normal.” Eventually, after using ultraviolet (UV) light, the woman was diagnosed with acute hepatic porphyria, shares Porphyria News.

Interested in learning more about how this diagnosis was made? Take a look at the full story published in BMJ Case Reports.

Acute Hepatic Porphyria

Acute hepatic porphyria (AHP) is one of the many porphyria subsets. Altogether, porphyria consists of at least 8 separate rare, inherited metabolic disorders that result from enzyme deficiencies. These enzyme deficiencies prevent the body from producing enough heme, part of hemoglobin. When this production is interrupted, porphyrins build up in cells and cause oxygen depletion. AHP is characterized, specifically, by enzyme deficiencies within the liver. Patients experience acute hepatic porphyria attacks, which may be triggered by stress, infections, alcohol use, or even hormonal changes. When these attacks occur, symptoms can include:

• Irritability or anxiety
• Auditory or visual hallucinations
• Confusion
• Muscle weakness
• Sensory loss
• Intense abdominal cramping
• Skin inflammation (in some cases)

Treatment is dependent on the specific type of AHP.

Case Study

When the young woman sought out medical attention, doctors needed to figure out what to do to make a diagnosis. To begin, they first performed blood tests, which appeared normal. Next, they performed abdominal scans to ensure that the woman wasn’t having an ectopic pregnancy. Eventually, they decided to do some urine testing.

Usually, diagnosis may involve genetic testing or checking porphyrin levels. In this case, doctors decided to see if they could detect porphyrin in the urine under a UV light. This is possible due to oxidation; once this process occurs, the porphyrins become fluorescent pink under the UV lights.

Upon testing the woman’s urine, the doctors noted that it appeared pink. This same pink also disappeared once the woman was no longer experiencing symptoms. As a result, the doctors diagnosed her with acute hepatic porphyria. While the woman understands her diagnosis, she says that she is fine now, but will continue to monitor herself – and try to avoid triggers – moving forward.