A rarity within a rarity – when presenting symptoms don't quite add up

The following Irish case eventually had a favourable outcome for all three doctors, who were assisted by the MDU throughout the lengthy legal process. They were all specialists who had seen the patient at different times over a period of several years and had failed to diagnose the condition that resulted in the patient's death.

At the trial in the High Court, the care provided to the patient was judged to have been negligent. This finding was overturned by the Supreme Court at appeal, where the judges accepted the view, expressed by a number of experts who had reviewed the clinical sequence, that failure to diagnose a rare presentation of an unusual condition was entirely understandable and in no way negligent.

There was no question of settling for financial expediency; it would have been cheaper to have negotiated settlement before the trial started in the High Court. However, this would have been unjustified in view of the extremely supportive expert opinions. A practitioner's professional reputation and integrity were on the line in a case where more than one doctor had failed to diagnose "a rarity within a rarity".

A two year history

Over a period of two and a half years leading up to his death, a male patient in his 30s had a history of abdominal pain, palpitations, severe headaches and nausea. On his first visit to A&E with a severe headache, his BP was measured at 125/75, a possible migraine was diagnosed and he was discharged with mefenamic acid.

Within a week, he presented at another hospital's A&E with shaking attacks, palpitations, severe headache, nausea and vomiting. He was admitted under the care of a consultant gastroenterologist. His temperature and BP were normal, as were initial bloods, urinalysis and CSF. Following a normal chest x-ray and a cranial CT scan, his symptoms subsided over the next 24 hours and he was discharged on no treatment.

Two years later, the man was referred by his GP to a consultant physician at the same (second) hospital, with a two-year history of abdominal pain, nausea and vomiting; there was also a history of panic attacks that had started shortly after the patient had been made redundant.

Finding the patient a "poor historian", the consultant physician referred him to the consultant gastroenterologist for an upper gastro-intestinal endoscopy, which revealed an anterior wall duodenal ulcer; a blood test showed evidence of infection with Helicobacter. The patient was given H2 antagonists, bismuth and antibiotics. Six weeks later his abdominal symptoms had resolved and repeat endoscopy revealed a complete healing of the ulcer. The patient was reviewed in the clinic and subsequently discharged.

Six months later

Six months after his successful ulcer treatment, the patient was admitted again via the same hospital's A&E department in the small hours complaining of shortness of breath and suffering haematemesis; he was cyanosed, with a pyrexia of 40ºC and a respiratory rate of 34/minute. His BP was 90/50 on admission, whereas it had previously been consistently in the normal range.

Auscultation revealed widespread crepitations and chest x-ray showed bilateral shadowing but normal heart size. He had an otherwise unremarkable examination. ECG showed sinus tachycardia, and blood gas analysis showed him to be hypoxic and acidotic.The A&E SHO diagnosed possible aspiration pneumonia, administered face-mask oxygen and arranged for the patient's admission under the overall care of the professor of medicine, the consultant physician on take.

Seen by the medical registrar two hours later, the patient was in respiratory distress, with bilateral crackles in both mid zones but normal heart sounds. The registrar diagnosed possible aspiration secondary to peptic ulcer or oesophageal tear and prescribed antibiotics, 60% oxygen, bronchodilators, H2 antagonists and a blood transfusion. Two hours later, the patient was transferred to the intensive care unit and ventilated; the patient’s sputum was noted to be blood stained on intubation.

Investigations that morning showed normal coagulation screen and platelets, raised urea, rising leucocyte count (90% polymorphs), potassium 2.7, sodium 146 and blood glucose 2.7. ECG at that stage showed an inferior myocardial infarction. The picture was little different that evening. The results of urine analysis and bone marrow puncture were normal and a toxicology screen came back as negative.

Early the following morning the patient suffered a cardiac arrest. ECG at the time showed sinus tachycardia and evidence of recent myocardial infarction. Attempts at resuscitation failed and the patient died.

At post mortem, the patient was found to have an extra-adrenal catecholamine-secreting phaeochromocytoma, and it was felt that paroxysmal adrenaline and noradrenaline secretions over time would have been the cause of permanent myocardial damage. This was an unexpected finding, since at no point had the patient been found to have an elevated BP during the numerous checks made over the course of his inpatient and out patient contacts.

Claim and defence

More than two years after the patient's death, his widow issued a writ in the High Court, naming the hospital, the consultant physician and the professor of medicine. Both doctors were MDU members.

The writ claimed negligence on the part of the two doctors for failing to diagnose the phaeochromocytoma and on the part of the hospital for the failure of the consultant gastroenterologist (also an MDU member) and his team to manage the patient's treatment over a period of years. The claim was for the death of the patient and for the consequent loss of his earnings, which would have supported his widow and their three children.

The plaintiff's case

The statement of claim alleged that the presenting symptoms of the phaeochromocytoma were present in the patient from as early as the first A&E attendance and that, had the appropriate investigations been made at the time, the condition would have come to light and surgery would have cured it. The plaintiff's team claimed that the failure of the consultant physicians to arrange appropriate tests and diagnose the condition amounted to medical negligence.

Expert opinion

Clinical experts opined that the diagnosis of extra-adrenal phaeochromocytoma can be extremely difficult and that the presenting symptoms are common to a wide variety of other conditions. One expert, a professor of endocrinology, stated that the fact that hypertension, a major symptom of phaeochromocytomas, had never been detected in the patient and that the abdominal pains had cleared up following treatment for a duodenal ulcer found during endoscopy investigation had essentially acted to eliminate these two symptoms from any further diagnostic consideration.

Moreover, the expert testified that:

"… phaeochromocytoma is a rare tumour…[occurring in only 1 to 4 per million population]. US research shows that most phaeochromocytomas, even when hypertension is present, are not discovered until post-mortem and many others are found serendipitously in tests for other possible sources. They are 'great mimics'– whose symptoms are referable to a wide range of ailments which are much more common and therefore far more likely to be the cause of the patients' symptoms than a phaeochromocytoma tumour.

"This patient had an extra-adrenal phaeochromocytoma (which occurs in 10 per cent of patients with these tumours) and was normotensive, which again is very rare… 95 per cent of patients with this condition are hypertensive. Absence of a finding of hypertension rendered the possibility of a phaeo[chromocytoma] 'too remote' to be checked out by a competent physician. Therefore, this unfortunate patient had two rare manifestations of a rare tumour… it is tragic that this diagnosis was not made by a number of medical attendances [over a period of several years], but I would firmly conclude that this is not negligent."

The MDU's legal team

The MDU's legal team said that there was absolutely no case to answer for the professor of medicine, whose team had cared for the patient during his last fatal hospitalisation, since, in light of the autopsy report, the phaeochromocytoma was well advanced and the condition by then beyond treatment. Despite repeated requests from the MDU's counsel, the plaintiff persisted in alleging that the professor of medicine had been negligent until the case reached the door of the court, at which point the plaintiff conceded that there was no case to be made against the professor and the case against him was struck out.

As for the consultant physician, there was strong expert evidence to support the care provided – and the legal team concluded that there was no clear evidence of negligence. He had sent the patient for gastro-intestinal endoscopy by way of investigation of the abdominal pain and the pain had apparently been cured following treatment of the duodenal ulcer that was discovered. Moreover, based on the expert evidence obtained, counsel said that "… the failure to diagnose the existence of the rare tumour in the absence of hypertension is excusable…". It was decided to defend the case.

The court hearings

The claim, which came to trial more than five years after the writ was issued and well over eight years after the events in question, was heard in the High Court in Dublin during ten days, spread over a number of weeks.

Some six months after the hearing ended, the judge suggested to the plaintiff's legal team that there might have been inadequate investigation of the patient's "panic attacks", which he suggested had been left as "loose ends", and invited both sides to provide further expert evidence on this issue.

The MDU's legal team protested strongly, arguing that this introduced a scenario addressed by neither party in evidence and pointing to the evidence of a psychiatrist expert instructed by the MDU, who had confirmed to the court that "the management had been entirely in accordance with what [he] would have done if the patient had been referred to [his] department". In addition, they argued that, if the plaintiff's team had failed in its evidence to make out the case against the defendants, then the claim should be dismissed.

Judgement was delivered more than six months later – no less than nine full years after the events that had led immediately to the patient's death, and more than a decade after the first consultation.

In his judgement, the High Court judge referred to the legal precedent of Dunne (an infant) v National Maternity Hospital (1989) I.R. 91, in which Chief Justice Finlay had specified six principles relating to the assessment of professional medical negligence, the first of which, the High Court judge said, was pertinent in this case:

"The true test for establishing negligence in diagnosis or treatment on the part of a medical practitioner is whether he has been proved to be guilty of such failure as no medical practitioner of equal status and skill would be guilty of if acting with ordinary care."

In light of this, the judge struck out the case against the consultant physician but found the case against the hospital – and, by implication, the consultant gastroenterologist's team’s management of the patient – proven, on the basis that they had failed appropriately to investigate the "panic attacks" of which the patient had complained at his GP-referred hospital appointment; the judge concluded that these had remained as "loose ends" that should have been followed up, particularly having regard to their severity over the years, which, in his view, could not be put down merely to the patient’s redundancy.

The consultant gastroenterologist was very unhappy with the judge's finding and very much wished an appeal to be pursued. The MDU also considered the finding was unjustified and committed to defending the member whose conduct, against all the expert opinion, had been found negligent. It was decided to appeal the finding against the hospital – and, by extension, the consultant gastroenterologist – since his reputation was on the line.

The plaintiff filed a cross-appeal both against the finding by the trial judge in respect of her first and main allegation against both defendants of negligence in failing to diagnose the phaeochromocytoma, and also against the dismissal of the action against the consultant physician.

The final outcome

The appeal was heard by the Supreme Court in due course. Two years after the High Court judgement, the finding of liability was overturned by a majority of 2 to 1. In their judgements, the two Supreme Court judges who allowed the appeal and dismissed the plaintiff's cross-appeal held that, in failing to find liability in the case of the failure to diagnose the phaeochromocytoma, the High Court had no grounds for finding the defendants negligent in failing to investigate the "panic attacks”

The amount of the claim had been agreed at just under €143,000 (roughly £100,000 sterling). In defending a point of principle in support of its members in the High and Supreme Courts, the MDU spent of the order of €210,000 (£150,000).

If no appeal had been made to the Supreme Court, the MDU's costs would have been roughly €160,000 and the MDU would also have paid the plaintiff's costs (which at that stage probably totalled an estimated €300,000) as well as the cost of the settlement (€140,000) – total MDU expenditure of €600,000 (£440,000).

In the event, an appeal was made; if it had been unsuccessful, the MDU would have paid of the order of €750,000 (settlement: €140,000, plus estimated plaintiff's costs: €400,000, plus defence costs: €210,000).

The entire legal process took over 13 years from the triggering event to the final appeal outcome, leaving those involved facing years of uncertainty as to whether they were to face the blame for the unfortunate course of events – and highlighting the need for legal reform in Ireland.

This page was correct at publication on 31/08/2004. Any guidance is intended as general guidance for members only. If you are a member and need specific advice relating to your own circumstances, please contact one of our advisers.