Undiagnosed AIP triggers woman’s sudden psychiatric symptoms
Case illustrates diagnostic, therapeutic challenges of neuropsychiatric problems
Sudden delusions and paranoia experienced by a 41-year-old woman without a psychiatric history were triggered by an undiagnosed case of acute intermittent porphyria (AIP), according to a case report.
The woman was treated with an antipsychotic medication, which completely resolved her psychiatric symptoms.
“This case highlights the complexity of managing psychiatric symptoms in AIP and emphasizes the importance of early recognition of symptoms and individualized treatment strategies,” the researchers wrote in the case study, “Managing Psychosis in Acute Intermittent Porphyria: A Case Report on Olanzapine Use,” published in Cureus.
Porphyria refers to a group of genetic diseases caused by a deficiency in one of several enzymes required for producing heme, an iron-containing molecule that enables oxygen transport throughout the body. AIP is caused by mutations in the HMBS gene and results in a deficiency of porphobilinogen deaminase, an enzyme involved in the third step of synthesizing heme. Without it, intermediate molecules that comprise heme, known as porphyrins, accumulate to toxic levels, causing damage, particularly to the nervous system.
Symptoms of AIP tend to emerge suddenly and can be severe, lasting from days to weeks, and then slowly subside. Common manifestations include pain, most often in the abdomen, along with gastrointestinal problems such as constipation, diarrhea, nausea, and vomiting. Changes in urine color and difficulty urinating have also been reported.
AIP can also cause a range of mental health issues, including anxiety, depression, confusion, hallucinations, delusions, disorientation, and paranoia.
No previous medical, psychiatric history
The woman, 41, had been described as introverted and calm, with no prior medical or psychiatric history, but she abruptly began to have delusions and paranoia. Before these symptoms, she’d done well in her work as an engineer, with no signs of a decline in her daily functioning.
She began to be convinced her colleagues and parents were trying to harm her, however, and believed she was in a romantic relationship with a male colleague. She also maintained a delusion that her parents had been replaced by impostors.
The woman had no auditory or visual hallucinations, unwanted thoughts, or passivity symptoms, which is the belief that an external agent controls one’s thoughts or actions. There was no family history of mental illness, or reports of alcohol or substance use, recent lifestyle changes, psychological stressors, or any dietary modification before her symptoms came on.
She developed recurrent abdominal pain and fever in the hospital, with further paranoia, leading to her refusing food. Due to her increasing irritability, agitation, and an attempt to leave the hospital, she was tranquilized and physically restrained to ensure her safety and that of others.
All standard clinical assessments were normal, including blood tests for kidney and liver function, urinalysis, and imaging studies using MRI and CT scans. An electroencephalogram to measure her brain’s electrical activity and an analysis of her cerebrospinal fluid, which surrounds the brain and spinal cord, were normal.
Due to persistent psychotic symptoms, she began olanzapine, an antipsychotic medication. Within three days, she became calmer, less confused, and more communicative.
After consulting with neurology specialists, who recommended additional tests, the woman tested positive for urinary porphobilinogen (PBG), a porphyrin precursor. A second positive PBG test confirmed an AIP diagnosis.
She received dextrose saline into a vein and was referred to a dietitian for a high-carbohydrate diet. Because she continued to improve with psychiatric and medical treatment, standard intravenous hemin wasn’t administered. Increasing doses of olanzapine eventually resolved her psychotic symptoms and she returned to her usual behavior, according to her family.
After a regular urine porphyrin test, the woman was discharged and reported no further psychotic symptoms at follow-up.
“This case highlights the diagnostic and therapeutic challenges of neuropsychiatric symptoms in AIP,” the researchers wrote. “Prompt urine PBG can aid early diagnosis and appropriate management, potentially averting complications and reducing diagnostic delay.”
About the Author
