Updating Acute Intermittent Porphyria: A Case of Self-Mutilation James H. Carter, MD Durham, North Carolina
Acute intermittent porphyria (AIP) as a precipitant of self-multilation in inmates, has not been documented. This case illustrates how AIP can go undiagnosed unless there is a high index of suspicion of this disease in the psychiatric patient, with persistent abdominal pains. This case illustrates the need to take seriously, the complaints of psychiatric patients, especially toxic-like symptoms, increasing paralysis, and abdominal pains. Perhaps acute intermittent prophyria has not been given the necessary attention in the literature which accounts for our failure to develop specific treatment methods.
Delusions about abdominal pains,
constipation, and even obsessive fears of cancer are common findings among certain psychiatric patients. However, the attempt to perform a self-exploratory laparotomy to rid one's abdomen of demons is a rare finding, even in a prison inmate who has been identified as dangerous and schizophrenic. In this case report, the chronic complaints of abdominal pains were not "delusional or manipulative" but were the manifestation of acute intermittent porphyria (AIP).
Case History The patient discussed is a 42-yearold white male inmate who was serving a ten-year sentence within the North Carolina Department of Corrections for breaking and entering with intent to commit a felony. His initial adjustment to prison had been extremely difficult, with the inmate attempting to escape on five separate occasions within only five months of incarceration. Upon entrance into the system a psychiatric profile had revealed him to be of borderline mental defect range
Requests for reprints should be addressed to Dr. James H. Carter, Assistant Professor of Psychiatry, Duke University Medical Center, Durham, NC 27710.
with a Beta IQ of 78. Personality testing revealed a "marginally adjusted individual who felt isolated from people, resented social demands, and externalized blame for his difficulties." In summary, he was described as a "habitual criminal with exaggerated complaints of stomach pains and decreased hearing." The inmate was called to my attention after displaying uncontrollable assaultive behavior, constant agitation, and threatening suicide. In addition, consultation was requested because it had been learned that on a previous admission to a state mental institution the patient had been diagnosed as "schizophrenic; chronic, undifferentiated." My first contact with the inmate was while he was in the prison's general medical hospital recovering from a rather serious self-inflicted laceration of his lower abdomen and claiming to have been attempting to "unlock" his bowels. The patient had attempted to perform his surgery with an unsterilized contraband razor blade. Fortunately, he was discovered performing his self-exploratory laparotomy, after reaching the depth of the abdominal superficial fascia. Having failed at surgery, he continued expressing the feeling that he would die from cancer of the bowel.
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, VOL. 69, NO. 1, 1977
From reviewing his medical evaluation, it was found that an upper gastrointestinal evaluation had been performed which revealed a normal esophagus. The stomach emptied slowly, but this was felt to be due to spasms in the region of the pylorus and duodenal bulb. The duodenal bulb appeared to be deformed "probably due to ulcer scarring and spasms." The section beyond the bulb also filled out poorly, apparently due to spasms. A film taken two hours later showed a slightly increased gastric residue. These findings were all explained on an emotional basis, requiring psychiatric consultation. My assessment of the patient was that he appeared hopeless and helpless, manifesting a psychotic depression. Complaints of constipation, vague abdominal pains and decreasing hearing were all felt to be a manifestation of his depression. Further confusing the clinical picture, were records from the previous mental hospital admission describing frank psychotic behavior with the patient confessing his sins and insisting that he was "the Lord's instrument of death." He showed improvement on chlorpromazine hydrochloride (Thorazine). Nevertheless, he persisted to relate that his bowels were "rotten" and surgery was indicated, raising the possibility of an obscure physical condition. Finally, the possibility of AIP was entertained when the patient expressed the additional symptom of "weakness" in his legs. A fresh urine sample was taken and was reported as positive for porphyria. A subsequent spectroscopic determination confirmed the diagnosis.
Discussion AIP remains of great interest to psychiatrists and psychiatric textbooks continue to make reference to the disorder. 1'2 Porphyria was first des51
cribed in 191 1, by Gunther, and is said to occur with an overall incidence of one per 100,000 population, resulting in the production of two specific types. These two types of porphyria have been identified as erythropoietic (c o ngenital) and hepatic. 1-4 The erythropoietic type is said to appear only in childhood and is mendelian recessive, while the hepatic type, which is of interest to psychiatrists, is inherited as an autosomal mendeliandominant trait.3-5 AIP manifestations appear most often in the third or fourth decade of life and are believed to occur most frequently in women. Acute attacks of AIP rarely occur before puberty and, in fact, recurrent symptoms may be so vague and protean as to go unrecognized .1 Ostensibly, some persons affected with this genetic abnormality may not show any clinical manifestations throughout life. The biological explanation for the overproduction of porphyrins remains to be confirmed.6 However, it should be noted that the accumulation and consequent increase in excretion of porphyrin or their precursors usually can be traced to the erythroid cells of the bone marrow, or to the liver. It must be recognized, however, that the increased urinary excretion of porphyrins or the precursors, such as aminolevulinic acids, can be seen in conditions other than porphyria. A functional pyridoxine deficiency, abnormalities in steroid metabolism, and an inhibition in mitochondrial electron transport have been suggested as the primary derangements leading to the overproduction of porphyrins.1 The psychiatric, physical, and neurological findings in this disorder have not been clearly described. Reported neurological findings include demyelination, sometimes with destruction of the axis cylinder in both the peripheral nerves and central nervous system. There have even been reported retrograde changes in the motor cells of the spinal cord and brain stem. Consequently, peripheral neuropathies involving one or all of the limbs, and the cranial nerves (eg, optic atrophy, facial palsy, ophthalmoplegia, and dysphasia) can be seen. Convulsions, and receptive and expressive aphasias, have been reported.3'4 Physical findings including vasomotor dysfunction, dermatological symptoms, patchy necrosis of the kidneys, a rise in blood pressure, and 52
more recently, tachycardia have been reported.1 The tachycardia develops within a few days of onset of symptoms and may increase after neurological signs expand; decreasing as these signs disappear.7 The description of psychiatric findings have been most vague and include symptoms of nervousness and emotional instability, agitation, depression, psychotic-like symptoms, delirium, and delusional experiences.2 AIP, however, most often presents with abdominal pains that have been associated with nausea and vomiting, often suggestive of appendicitis. The case discussed here reinforces the need to take abdominal complaints seriously in the psychiatric patient. In addition, the mortality rate in the reported cases of AIP is said to vary between 10 and 50 percent, especially if there is bulbar involvement.3 Therefore, a high index of suspicion and an alertness should lead to the examination of the urine of psychiatric patients with persistent abdominal pains, increasing paralysis, and toxic-like, organic mental symptoms. Being keenly aware that the disease can occur is the real key to diagnosis because laboratory determinations are simple and, in fact, porphyrins can be detected in fresh urine by means of the Ehrlich aldehyde agent. Frequently, simply exposing the urine to light, causing it to darken, can be presumptive evidence of porphyria. A definitive diagnosis can be made from spectroscopic examinations which readily permit identification of the uroporphyrins.3,4 This particular case is of interest because it raises the question of the relationship of criminality and stress as seen in a correctional institution to the manifestation of the disorder. Thus far we have been able to identify certain chemical agents as precipitants and among these are barbiturates, ch lo r o q uine, alcohol, hexachlorobenzene, estrogens (contraceptives), griseofulfin compounds, aminopyrine, and sulfonamides.1,4 In passing, the relationship between criminality and chromosomal abnormalities (eg, Klinefelter's syndrome and the selfmutilation commonly seen in LeschNyhan syndrome) has been the subject of much research. Self-mutilation, suicidal attempts, aggression, and violence, as a correlate of stress in prison, have been studied extensively in the absence of AIP.8-10
There seems to be no specific treatment, as such, for porphyria. Those agents identified as possible precipitants should be avoided. There are reports of the use of corticotropin (ACTH), a carbohydrate diet; and in women, the suppression of ovulation to minimize stress has been sug-
gested.3
5
Thorazine is highly recommended and was indeed effective in the case under discussion here. Consultation was obtained with regard to the patient's hearing difficulty and a hearing loss was established but, as expected, Thorazine had no effect upon this established neurological finding. This case demonstrates the need to take seriously the physical complaints of the psychiatric patient, especially those of abdominal pains, increasing paralysis of the extremities, and other toxic-like symptoms. Even though the treatment for the condition is nonspecific, one certainly can avoid the use of medications and other agents which have been known to aggravate the condition. I am of the opinion that AIP is probably more common than we would assume and that too few cases have been reported. The relationship of AIP and the aggressive behavior in this patient toward himself can be understood, but the cause of his behavior toward society has yet to be determined.
Literature Cited 1. Kolb LC: Modern Clinical Psychiatry, ed 8. Philadelphia, WB Saunders, 1973, pp 282-285 2. Dale AD: Disturbances in metabolism, growth, and nutrition, In Freedman AM, Kaplan H I, Sadock BJ (eds): Comprehensive Textbook of Psychiatry, vol 2. Baltimore, Williams and Wilkins, 1975, p
1080 3. Schmid R: Porphyria. In Beeson PB, McDermatt W (eds): Cecil-Loeb Textbook of Medicine, ed 12. Philadelphia, WB Saunders, 1968, pp 1229-1238 4. Merritt HH: A Textbook of Neurology, ed 5. Philadelphia, Lea and Febiger, 1973, pp 675-677 5. Elliott FA: Clinical Neurology. Philadelphia, WB Saunders, 1964, pp 583-584 6. Labb RF: Metabolic abnormalities in porphyria: The result of impaired biological oxidation. Lancet 1:1361-1364, 1967 7. Ridley A, Hierons R, Cavannough JB: Tachycardia and neuropathy of porphyria. Lancet 2: 208-209, 1968 8. Clanon TL: Persecutory feeling and self-mutilation in prisoners. Correct Psychiatry J Soc Therap 1 1: 96-102, 1965 9. Marver HS, Schmidt R: The porphyrias. In Stanbury JB, Wyngarden JB, Fedrickson DS (eds): The Metabolic Basis of Inherited Diseases, ed 3. New York, McGraw-Hill, 1972, p 1081 10. Claghorn J L, Beto SR: Self-mutilation in a prison hospital. Correct Psychiatry J Soc Therap 13:133-140, 1967
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, VOL. 69, NO. 1, 1977
Acute intermittent porphyria (AIP) as a precipitant of self-multilation in inmates, has not been documented. This case illustrates how AIP can go undiagnosed unless there is a high index of suspicion of this disease in the psychiatric patient, with persistent abdominal pains. This case illustrates the need to take seriously, the complaints of psychiatric patients, especially toxic-like symptoms, increasing paralysis, and abdominal pains. Perhaps acute intermittent prophyria has not been given the necessary attention in the literature which accounts for our failure to develop specific treatment methods.
Delusions about abdominal pains,
constipation, and even obsessive fears of cancer are common findings among certain psychiatric patients. However, the attempt to perform a self-exploratory laparotomy to rid one's abdomen of demons is a rare finding, even in a prison inmate who has been identified as dangerous and schizophrenic. In this case report, the chronic complaints of abdominal pains were not "delusional or manipulative" but were the manifestation of acute intermittent porphyria (AIP).
Case History The patient discussed is a 42-yearold white male inmate who was serving a ten-year sentence within the North Carolina Department of Corrections for breaking and entering with intent to commit a felony. His initial adjustment to prison had been extremely difficult, with the inmate attempting to escape on five separate occasions within only five months of incarceration. Upon entrance into the system a psychiatric profile had revealed him to be of borderline mental defect range
Requests for reprints should be addressed to Dr. James H. Carter, Assistant Professor of Psychiatry, Duke University Medical Center, Durham, NC 27710.
with a Beta IQ of 78. Personality testing revealed a "marginally adjusted individual who felt isolated from people, resented social demands, and externalized blame for his difficulties." In summary, he was described as a "habitual criminal with exaggerated complaints of stomach pains and decreased hearing." The inmate was called to my attention after displaying uncontrollable assaultive behavior, constant agitation, and threatening suicide. In addition, consultation was requested because it had been learned that on a previous admission to a state mental institution the patient had been diagnosed as "schizophrenic; chronic, undifferentiated." My first contact with the inmate was while he was in the prison's general medical hospital recovering from a rather serious self-inflicted laceration of his lower abdomen and claiming to have been attempting to "unlock" his bowels. The patient had attempted to perform his surgery with an unsterilized contraband razor blade. Fortunately, he was discovered performing his self-exploratory laparotomy, after reaching the depth of the abdominal superficial fascia. Having failed at surgery, he continued expressing the feeling that he would die from cancer of the bowel.
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, VOL. 69, NO. 1, 1977
From reviewing his medical evaluation, it was found that an upper gastrointestinal evaluation had been performed which revealed a normal esophagus. The stomach emptied slowly, but this was felt to be due to spasms in the region of the pylorus and duodenal bulb. The duodenal bulb appeared to be deformed "probably due to ulcer scarring and spasms." The section beyond the bulb also filled out poorly, apparently due to spasms. A film taken two hours later showed a slightly increased gastric residue. These findings were all explained on an emotional basis, requiring psychiatric consultation. My assessment of the patient was that he appeared hopeless and helpless, manifesting a psychotic depression. Complaints of constipation, vague abdominal pains and decreasing hearing were all felt to be a manifestation of his depression. Further confusing the clinical picture, were records from the previous mental hospital admission describing frank psychotic behavior with the patient confessing his sins and insisting that he was "the Lord's instrument of death." He showed improvement on chlorpromazine hydrochloride (Thorazine). Nevertheless, he persisted to relate that his bowels were "rotten" and surgery was indicated, raising the possibility of an obscure physical condition. Finally, the possibility of AIP was entertained when the patient expressed the additional symptom of "weakness" in his legs. A fresh urine sample was taken and was reported as positive for porphyria. A subsequent spectroscopic determination confirmed the diagnosis.
Discussion AIP remains of great interest to psychiatrists and psychiatric textbooks continue to make reference to the disorder. 1'2 Porphyria was first des51
cribed in 191 1, by Gunther, and is said to occur with an overall incidence of one per 100,000 population, resulting in the production of two specific types. These two types of porphyria have been identified as erythropoietic (c o ngenital) and hepatic. 1-4 The erythropoietic type is said to appear only in childhood and is mendelian recessive, while the hepatic type, which is of interest to psychiatrists, is inherited as an autosomal mendeliandominant trait.3-5 AIP manifestations appear most often in the third or fourth decade of life and are believed to occur most frequently in women. Acute attacks of AIP rarely occur before puberty and, in fact, recurrent symptoms may be so vague and protean as to go unrecognized .1 Ostensibly, some persons affected with this genetic abnormality may not show any clinical manifestations throughout life. The biological explanation for the overproduction of porphyrins remains to be confirmed.6 However, it should be noted that the accumulation and consequent increase in excretion of porphyrin or their precursors usually can be traced to the erythroid cells of the bone marrow, or to the liver. It must be recognized, however, that the increased urinary excretion of porphyrins or the precursors, such as aminolevulinic acids, can be seen in conditions other than porphyria. A functional pyridoxine deficiency, abnormalities in steroid metabolism, and an inhibition in mitochondrial electron transport have been suggested as the primary derangements leading to the overproduction of porphyrins.1 The psychiatric, physical, and neurological findings in this disorder have not been clearly described. Reported neurological findings include demyelination, sometimes with destruction of the axis cylinder in both the peripheral nerves and central nervous system. There have even been reported retrograde changes in the motor cells of the spinal cord and brain stem. Consequently, peripheral neuropathies involving one or all of the limbs, and the cranial nerves (eg, optic atrophy, facial palsy, ophthalmoplegia, and dysphasia) can be seen. Convulsions, and receptive and expressive aphasias, have been reported.3'4 Physical findings including vasomotor dysfunction, dermatological symptoms, patchy necrosis of the kidneys, a rise in blood pressure, and 52
more recently, tachycardia have been reported.1 The tachycardia develops within a few days of onset of symptoms and may increase after neurological signs expand; decreasing as these signs disappear.7 The description of psychiatric findings have been most vague and include symptoms of nervousness and emotional instability, agitation, depression, psychotic-like symptoms, delirium, and delusional experiences.2 AIP, however, most often presents with abdominal pains that have been associated with nausea and vomiting, often suggestive of appendicitis. The case discussed here reinforces the need to take abdominal complaints seriously in the psychiatric patient. In addition, the mortality rate in the reported cases of AIP is said to vary between 10 and 50 percent, especially if there is bulbar involvement.3 Therefore, a high index of suspicion and an alertness should lead to the examination of the urine of psychiatric patients with persistent abdominal pains, increasing paralysis, and toxic-like, organic mental symptoms. Being keenly aware that the disease can occur is the real key to diagnosis because laboratory determinations are simple and, in fact, porphyrins can be detected in fresh urine by means of the Ehrlich aldehyde agent. Frequently, simply exposing the urine to light, causing it to darken, can be presumptive evidence of porphyria. A definitive diagnosis can be made from spectroscopic examinations which readily permit identification of the uroporphyrins.3,4 This particular case is of interest because it raises the question of the relationship of criminality and stress as seen in a correctional institution to the manifestation of the disorder. Thus far we have been able to identify certain chemical agents as precipitants and among these are barbiturates, ch lo r o q uine, alcohol, hexachlorobenzene, estrogens (contraceptives), griseofulfin compounds, aminopyrine, and sulfonamides.1,4 In passing, the relationship between criminality and chromosomal abnormalities (eg, Klinefelter's syndrome and the selfmutilation commonly seen in LeschNyhan syndrome) has been the subject of much research. Self-mutilation, suicidal attempts, aggression, and violence, as a correlate of stress in prison, have been studied extensively in the absence of AIP.8-10
There seems to be no specific treatment, as such, for porphyria. Those agents identified as possible precipitants should be avoided. There are reports of the use of corticotropin (ACTH), a carbohydrate diet; and in women, the suppression of ovulation to minimize stress has been sug-
gested.3
5
Thorazine is highly recommended and was indeed effective in the case under discussion here. Consultation was obtained with regard to the patient's hearing difficulty and a hearing loss was established but, as expected, Thorazine had no effect upon this established neurological finding. This case demonstrates the need to take seriously the physical complaints of the psychiatric patient, especially those of abdominal pains, increasing paralysis of the extremities, and other toxic-like symptoms. Even though the treatment for the condition is nonspecific, one certainly can avoid the use of medications and other agents which have been known to aggravate the condition. I am of the opinion that AIP is probably more common than we would assume and that too few cases have been reported. The relationship of AIP and the aggressive behavior in this patient toward himself can be understood, but the cause of his behavior toward society has yet to be determined.
Literature Cited 1. Kolb LC: Modern Clinical Psychiatry, ed 8. Philadelphia, WB Saunders, 1973, pp 282-285 2. Dale AD: Disturbances in metabolism, growth, and nutrition, In Freedman AM, Kaplan H I, Sadock BJ (eds): Comprehensive Textbook of Psychiatry, vol 2. Baltimore, Williams and Wilkins, 1975, p
1080 3. Schmid R: Porphyria. In Beeson PB, McDermatt W (eds): Cecil-Loeb Textbook of Medicine, ed 12. Philadelphia, WB Saunders, 1968, pp 1229-1238 4. Merritt HH: A Textbook of Neurology, ed 5. Philadelphia, Lea and Febiger, 1973, pp 675-677 5. Elliott FA: Clinical Neurology. Philadelphia, WB Saunders, 1964, pp 583-584 6. Labb RF: Metabolic abnormalities in porphyria: The result of impaired biological oxidation. Lancet 1:1361-1364, 1967 7. Ridley A, Hierons R, Cavannough JB: Tachycardia and neuropathy of porphyria. Lancet 2: 208-209, 1968 8. Clanon TL: Persecutory feeling and self-mutilation in prisoners. Correct Psychiatry J Soc Therap 1 1: 96-102, 1965 9. Marver HS, Schmidt R: The porphyrias. In Stanbury JB, Wyngarden JB, Fedrickson DS (eds): The Metabolic Basis of Inherited Diseases, ed 3. New York, McGraw-Hill, 1972, p 1081 10. Claghorn J L, Beto SR: Self-mutilation in a prison hospital. Correct Psychiatry J Soc Therap 13:133-140, 1967
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, VOL. 69, NO. 1, 1977
