Convert H, Védie C
Service du Dr Foucault, unité Ariane, centre Constance-Pascal, centre hospitalier Marc-Jacquet, rond point Saint-Liesne, 77000 Melun, France.
Unité les Tilleuls, centre hospitalier Valvert, boulevard des Libérateurs, 13391 Marseille cedex 11, France.
Encephale. 2014 Sep;40(4):345-50. doi: 10.1016/j.encep.2012.09.003. Epub 2013 Aug 28.
Porphyrias are rare inherited disorders due to specific enzyme abnormalities of heme biosynthesis. We can classify them as hepatic or erythropoïetic, the type depends on the organ in which the enzyme is deficient. Among the hepatic forms, three of them are clinically characterised by acute abdominal pain and neuropathy, sometimes associated with psychiatric disorders.
This 58-year-old woman has been hospitalized frequently since 1995 with depression, apathy, or for suicide attempts. She has a history of alcohol addiction and since 1992 suffers from non-insulin dependant diabetes. She had been treated by benzodiazepines and neuroleptic medication for several years. Psychiatric examination revealed persecution and megalomania delirium associated with a Capgras syndrome, confusion, disorientation, depression and blunted affect. Results of neurologic examination showed reduced deep tendon reflexes, and nerve conduction revealed sensitive neuropathy. Moreover, she lay down, remained non-responsive and resisted care. The whole clinical picture evoked early dementia. Coloured urine was noticed and porphyria tested. When the diagnosis of intermittent acute porphyria was made, she gradually improved by stopping the drugs not indicated for the case, and by treating her diabetes. A few months later, while hospitalized for a similar episode, she choked on her food and died, probably caused by autonomic neuropathy.
Our hypothesis was that chronic and debilitating psychopathology may be due to acute intermittent porphyria. Probably, among patients treated for psychiatric illness, some of them may suffer from this enzyme abnormality. Above all, the psychopathology associated with intermittent acute porphyria is polymorphous such as atypical psychosis, schizoaffective disorder, depression, apathetic withdrawal, and in this case report dementia. In like manner, organic manifestations are numerous and varied, leading to erroneous diagnosis. We suspect that patients with porphyria are common among mentally ill subjects. Do we have to test all our psychiatric patients for porphyria? It seems that the prevalence of intermittent acute porphyria in the psychiatric patient population is 0.21%, whereas the prevalence in the normal population is from 0.001 to 0.002%.
The early detection of porphyria may diminish morbidity and mortality rates, and perhaps heal some chronic atypical psychiatric illnesses.
卟啉病是由于血红素生物合成过程中特定酶异常导致的罕见遗传性疾病。我们可将其分为肝性或红细胞生成性，类型取决于酶缺乏所在的器官。在肝性卟啉病类型中，其中三种在临床上的特征为急性腹痛和神经病变，有时伴有精神障碍。
这位58岁女性自1995年以来因抑郁、冷漠或自杀未遂频繁住院。她有酒精成瘾史，自1992年起患有非胰岛素依赖型糖尿病。她曾接受苯二氮䓬类药物和抗精神病药物治疗数年。精神检查发现被害妄想和夸大妄想，伴有卡普格拉综合征、意识模糊、定向障碍、抑郁及情感迟钝。神经检查结果显示深部腱反射减弱，神经传导检查显示感觉神经病变。此外，她躺卧不起，无反应且抗拒护理。整个临床表现提示早期痴呆。发现尿液有颜色并检测了卟啉病。当诊断为间歇性急性卟啉病后，通过停用不适用于该病例的药物并治疗她的糖尿病，她逐渐好转。几个月后，在因类似发作住院期间，她食物呛噎后死亡，可能是由自主神经病变所致。
我们的假设是慢性且使人衰弱的精神病理学可能归因于急性间歇性卟啉病。可能在接受精神疾病治疗的患者中，有些人可能患有这种酶异常。最重要的是，与间歇性急性卟啉病相关的精神病理学是多形性的，如非典型精神病、分裂情感性障碍、抑郁、淡漠退缩，在本病例报告中还有痴呆。同样，器质性表现多种多样，导致错误诊断。我们怀疑卟啉病患者在精神病患者中很常见。我们是否要对所有精神科患者进行卟啉病检测？似乎精神科患者人群中间歇性急性卟啉病的患病率为0.21%，而正常人群中的患病率为0.001%至0.002%。
卟啉病的早期检测可能降低发病率和死亡率，或许还能治愈一些慢性非典型精神疾病。
