Relationships between emotional stress and the precipitation of acute intermittent porphyria have rarely been suggested. Eldahl reported an episode occurring only two days after a traumatic event.6 Visher and Aldrich10 correlated urinary coproporphyrin levels with the emotional state of a patient and concluded that anxiety was important in determining the onset of her symptoms. Roth,9 after stating that porphyria occurred almost exclusively in people with severe neurotic personality disorders, speculated that “psychoneurosis plays an important part in the pathogenesis of the disease, and in determining the time of onset of the acute attack.” On the other hand, Cross1 has cautioned that “Sweeping assertions about the importance of psychogenic factors, especially in diseases of metabolism, are open to the charge of belonging to the post-hoc, ergo-propter-hoc category.” Such caution is well advised, particularly in a disease with such a multiplicity of precipitants as acute intermittent porphyria. In addition to precipitating factors, gene penetrance is of great importance in determining which members of a tainted family develop the manifest illness.
The six patients described in this report all became ill at a time when either anxiety or depression was produced by disturbing life situations. In three instances the relationship between the emotional stressor and the onset of the manifest disease was immediate and dramatic. For two of these patients, the loss of an important interpersonal relationship was the triggering factor. The other three patients gradually developed symptoms in settings where stress was of a continuing nature, associated with either an unhappy marriage or the pressure of an unmanageable work load. Alcoholism in the history of one very probably contributed to his morbidity and eventual mortality.
The correspondence between the mean porphobilinogen level and emotional stress in one family group presents additional evidence of the importance of disturbed life situations in the pathogenesis of this disease. At a time when one member was moribund and in a respirator, the porphobilinogen excretion of the family rose dramatically. As he improved it gradually diminished. The unexplained peak at the seventh week may have been a result of other unknown stress factors, or there may be cyclic variations in porphobilinogen excretion. Longer and more detailed followup might resolve this question.
Studies of stress have been concerned primarily with the adrenal cortex rather than with specific enzyme systems. It is apparent that a multitude of nonspecific stressors, emotional, pharmacologic, or physical, are capable of making manifest a latent biochemical lesion. The investigation of the vicissitudes of other enzyme systems in stressful situations would seem warranted and potentially profitable in understanding disease mechanisms.
The literature would imply classical personality configurations for these patients and their families. This was not observed in our study. The MMPI's of thirteen members of KB's family, all of whom had positive Schwartz-Watson tests at one time or another, revealed almost no abnormal scores in any of the scales. The members of HA's family who became ill manifested sociopathic and schizophrenic behavior, while KB's relatives presented with predominantly neurotic symptoms. These observations suggest that much of the behavior seen in patients with acute intermittent porphyria will depend on their basic premorbid personality. Thus psychiatric symptomatology to be seen in these patients can be expected to vary from one person to another.
Unfortunately, this disease is frequently misdiagnosed. Measures taken to produce symptomatic relief, such as somatic therapy or sedation with barbiturates, only serve to intensify the process. Often surgery is performed with pentothal induction; this has had dire consequences. Although chlorproniazine has been helpful for some patients, it has harmed others. In our experience Demerol, together with ACTH and chelating agents, such as Versene, has been of greatest value. The danger of addiction to Demerol is great, and caution should be used with its exhibition.
Received October 10, 1958
Copyright © 1959 by American Psychosomatic Society