Episodes of pain lead to AIP diagnosis in teenage girl
Case highlights challenges in diagnosing, treating 'rare, debilitating disorder'
A 17-year-old girl was eventually diagnosed with acute intermittent porphyria (AIP) after experiencing several episodes of intense abdominal pain, gastrointestinal issues, and seizure-like activity, according to a report in the U.S.
“This case highlights the diagnostic complexities and treatment challenges that patients with AIP face when navigating this challenging clinical syndrome and identifies an opportunity for increased awareness to guide the testing and treatment for AIP,” researchers wrote.
Her case was described in the article “Acute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges,” which was published in Cureus.
AIP, the most common type of porphyria, is caused by mutations in the HMBS gene that disrupt the activity of the hydroxymethylbilane synthase (HMBS) enzyme. This enzyme is required for the production of heme, a molecule that enables red blood cells to transport oxygen. Without functional HMBS, heme precursors, such as aminolevulinic acid and porphobilinogen (PBG), accumulate to toxic levels in tissues.
AIP symptoms commonly include attacks of intense abdominal pain accompanied by gastrointestinal symptoms, such as nausea and vomiting. Seizures, anxiety, hallucinations, and other neuropsychiatric symptoms are also common.
Overlapping symptoms with other conditions can delay diagnosis
Because these symptoms overlap with those of other conditions, the diagnosis of AIP can be challenging to make and is often delayed.
In the report, researchers in the U.S. described the case of a 17-year-old Hispanic girl who was diagnosed with AIP after experiencing several episodes of intense abdominal pain, vomiting, and seizure-like activity.
She was admitted to the researchers’ hospital with intractable abdominal pain of unknown cause.
About one month earlier, she had gone to an outside emergency department after feeling like she was about to faint, but without actually losing consciousness. This was followed by lower abdominal pain, nausea, and vomiting. She was initially treated for a urinary tract infection with antibiotics.
After three days, she returned with worsening pain and vomiting, and was found to have high blood pressure (hypertension), a fast heart rate (tachycardia), and elevated levels of leukocytes, or immune cells, thought to be associated with a kidney infection.
During her nine-day hospital visit, she developed bloody diarrhea and was treated with antibiotics for both kidney and bowel inflammation. She also had an episode of seizure-like activity, which was presumed to be due to psychological factors. After her condition improved, she was discharged with no medications.
A third episode one week later prompted the girl to be transferred to the researchers’ hospital, with abdominal, pelvic, and back pain. She also had hypertension and tachycardia, and expressed concern for decreased movement and sensation in the extremities, even though she was able to walk unaided.
She was given intravenous (into-the-vein) pain medication, including opioids, which failed to significantly ease her pain, and medication to lower her blood pressure.
Genetic analysis confirms AIP diagnosis
Further tests revealed the girl had high levels of PBG and porphyrins in her urine, as well as high levels of total porphyrins and zinc-complexed protoporphyrin in the blood. Based on these results, she was diagnosed with AIP, which was further confirmed with a genetic analysis showing the girl had a mutation in one copy of the HMBS gene.
She started treatment with intravenous hemin for 14 days, which eased her nausea. However, the girl continued experiencing abdominal pain requiring the administration of strong painkillers, including hydromorphone, a type of opioid, and ketamine.
She was eventually weaned off hydromorphone, and started on Givlaari (givosiran), which effectively controlled her pain and other porphyria symptoms. After being discharged, she continued monthly treatment with Givlaari, while having regular lab tests and avoiding potential attack triggers. She remained asymptomatic at the latest follow-up.
“This case emphasizes the significant impact of social factors, including gender, ethnicity, and language barriers, on the timely diagnosis and management of AIP,” the researchers wrote. “Improving outcomes for AIP patients requires raising clinical awareness, advancing research into effective treatments, and addressing systemic healthcare inequities. With this multifaceted approach, we can hope to provide timely and effective care to all AIP patients, mitigating the severe complications associated with this rare, debilitating disorder.”
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