2009, Number 5
Psychiatric complications of a late diagnosis of acute porphyria in an affected male
Elizondo CG, Hernández AMD, Rangel GR, Arteaga AMG
Full text
Language: English
References: 18
Page: 365-369
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ABSTRACT
Introduction: Acute porphyrias are rare genetic disorders of incomplete penetrance (10%). This means that only 10% of the individuals with the genotype known to cause the disease will show any signs or symptoms of such disease. They consist of a deficiency of any enzyme of the heme biosynthesis and are considered as exceptional inborn errors of metabolism with an autosomal dominant inheritance. The incidence is 1 in 100 000. The symptoms are variable and unspecific, consisting mainly of severe abdominal pain, tachycardia, and hypertension. Other frequent manifestations are psychiatric symptoms like depression, psychosis, and hallucinations. In addition to these unspecific symptoms, patients may also present peripheral neuropathy and loss of sensation, which can become permanent. In severe cases, liver damage and chronic renal disease can occur. The objective of this study is to highlight the importance of the difficult diagnosis of acute porphyria, the implications of a misdiagnosis, and the importance of adequate treatment.Case: We present a 47 year-old male with a history of abdominal pain for seven years. The pain was diffuse, progressive, and incapacitating. He was diagnosed and treated for chronic gastritis and cholecystitis without improvement. An elective cholecystectomy was performed but he continued with intense abdominal pain. Three years later he developed hallucinations, paresthesias, muscular weakness, depression, and irritability. He was managed as a psychiatric patient with psychotic tendencies. After a complete and thorough history of all his symptoms throughout the years and a re-examination of the patient, acute porphyria was considered as a possible diagnosis. Specific laboratory studies were indicated revealing elevated levels of porphyrines, elevated levels of PBGD, PBG in urine within normal levels, elevated presence of coproporphyrines by chromatography, and a normal PBGD enzymatic activity. The diagnosis of acute porphyria was established. Appropriate treatment was initiated starting with adequate pain management. A high carbohydrate diet was also recommended with appropriate nutritional requirements and caloric intake. Another important aspect of the management was the elimination of risk factors, like alcohol, cigarette smoking, and certain specific medications. Follow-up showed significant improvement of his symptoms and less frequent acute attacks with identification and elimination of risk factors. He was able to return to a stable work schedule. The patient presents residual permanent renal damage. Adequate doctor-patient education was maintained.
Discussion: This case is an important example of a not-so-rare genetic disease that any physician should have in mind when confronted with a patient with unspecific paroxysmal clinical manifestations. The possibility of acute porphyria should always be excluded before establishing a diagnosis of a psychiatric illness. Prompt diagnosis and management are crucial to reduce the risk of recurrences and permanent damage. Patient education is a very important aspect of the management of the disease since there is no cure. There is a specific treatment for the management of acute attacks (Hemin) but, unfortunately, it is still unavailable in our country. This is a problem that turns the management and prevention of risk factors into the most important tools we have to improve our patients’ quality of life.
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