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It is reasonable to infer—given the accuracy and sophistication of modern diagnostic techniques—that those patients whose symptoms remain unexplained despite specialist investigation have a somatoform disorder1. Indeed such an inference may be obligatory, since protracted rounds of investigative procedures are expensive and can be harmful, while appropriate psychiatric or psychotherapeutic treatment is effective2,3. Nonetheless, general practitioners in particular recognize that definitive diagnosis can remain elusive in patients whose symptoms point strongly to organic disease. Their symptomatology can be distinguished from the somatoform disorders on the grounds of specificity and consistency: the same symptom complex is described, often in considerable detail, over a long period with little or no variation.
So far there has been no systematic study of these difficult-to-diagnose syndromes, so their pattern and prevalence remains unknown. I describe here a series of ‘mystery’ syndromes, as reported by readers of a national daily paper over 2 years, as a possible basis for further investigation of this important and neglected issue.
Over the past 10 years I have contributed a weekly medical column to the Daily Telegraph, which has a daily readership of about 2 250 000. In October 1998 a reader described how almost every evening he developed ‘an itchy tickling in the throat that induces an episode of convulsive coughing which ends in six huge sneezes’. This was accompanied by ‘aching ears, a feeling in the head as of a nasty cold, but no production of mucus’. Three Ear, Nose and Throat (ENT) specialists whom he had consulted had apparently ‘been baffled’—but my description of his symptoms in a subsequent column elicited over 40 responses from readers reporting both further unusual sneezing syndromes and a variety of putative causes including NSAID sensitivity. The reader duly discontinued the ibuprofen he was taking for his arthritis with prompt remission of his symptoms.
The scale and diversity of responses to this single unusual query may seem surprising but the readership of the column is probably greater, by an order of magnitude, than the number of patients that any single doctor would see in a lifetime of practice. The column thus seemed to offer a unique opportunity for the clarification of other unusual symptom patterns, since its readers were likely to include either others with similar symptomatology or medically qualified readers who might recognize them.
There is a precedent for this method of reaching a diagnosis in a Babylonian custom from the 5th century BC as described by the Greek historian Herodotus:
‘They bring their invalids out into the street, where anyone who comes along offers the sufferer advice on his complaint, either from personal experience or observation of a similar complaint in others. Anyone will stop by the sick man's side and suggest remedies which he has himself found successful in whatever the trouble may be, or which he has known to succeed with other people. Nobody is allowed to pass a sick person in silence; but everyone must ask him what is the matter... ’4.
It seemed reasonable therefore to suggest that readers whose symptoms had similarly ‘baffled the doctors’ should submit a brief description in the hope that others might be in a position ‘to suggest remedies that had proved successful in whatever the trouble may be’. This request has elicited, over two years, reports of a further 150 mystery syndromes, publication of which has generated numerous suggestions from readers as to their possible aetiology. In some, the symptoms suggested a provisional diagnosis, and these are listed in Box 1. This paper presents a selection of the remaining ‘unsolved mysteries’ in the hope they may be recognized by readers of the Journal. It is possible that some are being described for the first time in a medical publication.
These ‘mystery syndromes’ are listed by the specialty whose practitioners are most likely to be able to suggest a provisional diagnosis.
Neurological disorders are a particularly fertile source of mystery syndromes. (i) and (ii) are suggestive of a myopathic disorder5,6 and (iii) of a hypnogogic hallucination—though it was also attributed to the eastern mystical ‘Kundalini experience’7. There were a couple of variants of facial pain8 and several of presumed dysautonomia of the circulatory and thermoregulatory systems, and it would be surprising if some at least have not already been described9. The pain syndromes are of interest in mimicking well-recognized conditions such as Morton's neuroma and glomus—though without the characteristic features of being exacerbated by pressure.
ENT offers a diverse range of mysteries. There is an obvious similarity between the `throbbing nostril” (iii) and the `eye pain at night of the previous section (facial pain). The ‘sore ear’ (iv) simulates chondrodermatitis helicis10 and is perhaps due to pressure induced ischaemia. The chronic sore throat (vii) is likely to be allergy induced (ozone, cleaning sprays and plants have been incriminated), though acid reflux is also a possibility11.
Episodic nausea (i) may be due to the recently described syndrome of visceral hyperalgesia12, and the abdominal pain on lifting (ii) was attributed to either an abdominal hernia or a prolapsed disc. Rectal pain (v) is probably a variant of proctalgia fugax, but here mimics the pain of haemorrhoids.
Smelly scalp (i) was attributed to overenthusiastic hair-washing and the walker's ankle rash (iv) to a combination of sweat and washing-powder allergy. Itchy feet (iii) is presumably neuropathic and a variant of burning foot syndrome.
The pounding heart (i) could be due to dysautonomia, but the associated vibration is most unusual. The involuntary inspiration (ii) may be a vagally mediated reflex, and excess yawning (iii) was attributed to a cervical injury13.
Both (i) and (iv) are suggestive of spinal disorders—though the symptomatology is most unusual. The nocturnal hip pain (iii) would be characteristic of trochanteric bursitis were it not for the failure to respond to cortisone injections14.
The electrical shock of (i) was linked by several Telegraph readers to neck movement—but this was disputed.
The symptoms of ‘sore throat’ vagina (ii) were reportedly relieved by masturbation, suggesting it is caused by ‘pelvic congestion’.
Sleep, being an altered state of consciousness, would be expected to generate several mystery sensory symptoms. (i) and (iii) are strongly suggestive of dysautonomia type syndrome.
‘When I drink a pint of beer it goes flat in the glass immediately. When the glass is refilled the beer immediately loses its head—even before I have touched it. It seems I must have left some chemical in the glass which has this effect. I would not be over-concerned, but I have also been feeling very tired and suffering from dizzy spells, chest pains and muscle spasm. My urine is frequently ioly. It has been tested and nothing has been found. I also note that if I drink red wine an oily film forms on the top.’
The major developments in imaging and other diagnostic procedures over the past three decades have generated the expectation on the part of both doctors and their patients that it should be possible to establish ‘what is wrong’. Logically then, those whose symptoms remain medically unexplained—where neither objective findings from examination nor investigation point to an organic cause—are presumed to have a somatoform disorder.
This paper challenges this assumption in three grounds. First, the somatoform disorders are not ‘diagnoses of exclusion’ but rather exhibit the characteristic pattern of being variable over time and involving more than one body system. By contrast, the two main characteristics of these ‘mystery syndromes’ are their consistency and specificity. Second, the provisional diagnoses listed in Box 1 rely on the history alone in the absence of objective confirmatory findings from examination and investigation. There is no reason to suppose that the same should not apply to the unsolved mystery syndromes. Third, doctors are not yet infallible, so it can be presumed that some of the symptoms that are ‘medically unexplained’ may well reflect organic disease15.
These mystery syndromes are by definition not common, but cumulatively they pose a substantial challenge to medical practice since they generate repeated consultations and investigation. They can also cause considerable distress, both from the symptoms themselves and from the failure to establish a diagnosis—especially when doctors imply that ‘medically unexplained’ is equivalent to ‘psychological’.
I hope that readers of the JRSM will be in a position to suggest a provisional diagnosis for some of the mystery syndromes described above, or by recognizing them in other sufferers contribute to the identification of previously unreported medical disorders16.