Rare Genetic Disorder Diagnosed After Years of Severe Abdominal Pain in Young Woman

A 28-year-old woman's years-long struggle with severe, recurrent abdominal pain, which caused her to writhe in agony and seek emergency care multiple times, finally found a diagnosis: Acute Intermittent Porphyria (AIP). Despite undergoing gastroscopies and CT scans, the cause of her debilitating pain remained elusive until she was referred to Linkou Chang Gung Memorial Hospital.

Doctors at the hospital identified AIP, a rare genetic metabolic disorder. According to Dr. Kuo Hung-chou, deputy superintendent of the Department of Neurology at Linkou Chang Gung, AIP typically manifests after puberty, with a higher prevalence in women of childbearing age. The overall incidence in Taiwan is estimated at 1 in 300,000, with fewer than 100 confirmed AIP cases on record, suggesting that many cases may go undiagnosed.

AIP arises from enzyme abnormalities in the heme synthesis pathway, leading to the accumulation of toxic metabolites. Acute attacks can present with symptoms such as abdominal pain, vomiting, and constipation. Neurological symptoms like palpitations, elevated blood pressure, hyponatremia, confusion, seizures, and limb weakness can also occur. The complex and non-specific nature of these symptoms often leads patients to consult various specialists, including gastroenterologists, neurologists, and psychiatrists, delaying a correct diagnosis.

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If young women repeatedly experience severe abdominal pain with unknown causes, accompanied by nausea, palpitations, low sodium, darkening urine, or even seizures and limb weakness, they should be highly vigilant.

Dr. Kuo advises that individuals, particularly young women, experiencing recurrent, severe, and unexplained abdominal pain, especially those with a history of multiple emergency room visits or hospitalizations for the same symptoms, should consider AIP. Initial diagnosis can involve urine tests for porphobilinogen (PBG) and delta-aminolevulinic acid (ALA), with confirmation through biochemical and genetic testing. A key indicator can be the urine turning reddish-brown upon exposure to light after PBG levels rise.

Treatment for acute attacks involves intravenous heme infusions, typically lasting three to five days, to suppress abnormal metabolism and alleviate symptoms. For patients experiencing frequent attacks or poor response to heme therapy, preventive medication can be sought through Taiwan's National Health Insurance. Factors that can trigger AIP attacks include fasting, rapid weight loss, smoking, alcohol consumption, hormonal changes related to the menstrual cycle, and certain medications metabolized by the liver. Research indicates that approximately 5% to 8% of female patients experience attacks linked to their menstrual cycles. Dr. Kuo emphasizes that early identification, accurate diagnosis, and avoidance of triggers can significantly reduce the risk of recurrent attacks and severe neurological complications.

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Although AIP is rare, early identification, correct diagnosis, and avoiding triggers can help reduce the risk of recurrent acute attacks and severe neurological complications.