The most common psychotropics used were sertraline 100–150 mg/d, risperidone 2–4 mg/d, diazepam 5–10 mg/d, and trazodone 50–150 mg/d. She would improve within 7 to 10 days of hospitalization with various interventions that included removal from a stressful environment, treatment of dehydration, improved oral intake, and opioid medications for pain. A complex partial seizure disorder was diagnosed by the neurologist, and Ms A was maintained on phenytoin. Her repeated admissions to the hospital were attributed to poor compliance, resistance to treatment, or poor psychosocial conditions. Ms A was diagnosed with schizoaffective disorder (depressed type) per DSM-IV-TR criteria. Ms A's history was negative for cutaneous or photosensitivity reactions, liver or thyroid dysfunction, and substance use disorders. More than 75% of her exacerbations were also accompanied by multiple seizures. In addition, Ms A would complain of vague moderate to severe abdominal pain, intermittent nausea, vomiting, and severe low back pain. Ms A, a 34-year-old woman with a history of seizure disorder, had been admitted to the hospital every 2 to 3 months over the last 4 years with sadness, excessive fatigue, paranoid delusions, auditory hallucinations, suicidal ideations/attempt, poor appetite, and sleep disturbances. 2, 4 We present a case of hereditary coproporphyria, one of the acute porphyrias, to illustrate broad manifestations, unsuspected diagnosis, and difficulties in management. 5 In some patients with acute porphyrias, the neuropsychiatric manifestations overshadow the visceral symptoms such that the diagnosis of porphyria is not considered. 1, 5 Women are 4 to 5 times more likely to have clinical manifestations than men. Clinical manifestations arise after puberty, with a peak age presentation in the early thirties. 2, 4 Tishler et al 8 and Burgoyne et al 6 reported prevalence rates of 0.21% and 0.48%, respectively, for acute porphyria in psychiatric inpatients, which were considerably higher than rates in the general population.

1 Because the disease has variable expression, the estimated prevalence of gene carriers for acute porphyria in the general population of the United States is 1 to 2 per 10,000 people, with clinical disease manifesting in approximately 10% of these carriers. Porphyrias are mainly inherited in an autosomal dominant manner with incomplete penetrance, but autosomal recessive and more complex patterns of inheritance are also possible (see Figure 1). 1, 2, 5 Recovery of mental function often lags behind physical recovery, and some patients report functional disturbances indefinitely. 1, 4 Severe abdominal pain is the most commonly reported presenting symptom during acute attacks. 4 Neurovisceral manifestations include seizures, neuropathy, hyporeflexia, autonomic instability, abdominal pain, constipation, nausea, and vomiting. 2, 4 Some patients develop psychosis similar to schizophrenia. 2, 6, 7 Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, agitation, delirium, and restlessness. Symbols: + = slightly high, ++ = moderately high, +++ = very high.Īmong patients with acute porphyrias, 20% to 58% have neuropsychiatric symptoms during acute exacerbations.

12īPorphyrias presenting with neuropsychiatric manifestations (acute porphyrias).ĬAcute porphyrias with cutaneous manifestations.ĭEnzyme deficiency can be detected by enzyme activity measurement and DNA testing to help confirm the type of acute porphyria and to enable identification of asymptomatic but at-risk relatives.Ībbreviations: AD = autosomal dominant, AR = autosomal recessive, N = normal. Heme Synthesis, Porphyrias, and Laboratory Investigations aĪData from Kauppinen, 1 González-Arriaza and Bostwick, 2 Anderson et al, 3 Crimlisk, 4 Thadani et al, 5 Regan et al, 7 and Khanderia and Bhattacharya.

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