What is Zollinger-Ellison syndrome and how to diagnose it

Zollinger-Ellison syndrome is a very rare clinical condition with an incidence of 1 patient in 1 million inhabitants

How Zollinger-Ellison syndrome manifests itself

It is a disease in which the symptoms are caused by overproduction of hydrochloric acid by the stomach, leading to the onset of ulcers in the stomach, oesophagus or duodenum, which causes the patient to experience epigastric pain, diarrhoea, burning, difficulty in swallowing food, with subsequent weight loss and a general feeling of malaise.

In more serious cases, the onset of these ulcers can cause bleeding, whereby the patient may notice dark stools or vomiting with traces of blood.

The main cause of Zollinger-Ellison syndrome

The overproduction of gastric acid caused by the syndrome is linked to the fact that there is an overproduction of gastrin, a hormone that stimulates the stomach during the digestive phase to produce gastric juice.

In this case, the trigger for this excessive production of gastrin is a neuroendocrine tumour, the gastrinoma.

What is a gastrinoma

Gastrinoma is a neuroendocrine tumour that can be located in the pancreas or, more frequently, at the level of the second duodenal portion in the so-called ‘gastrinoma triangle’.

In 75% of cases this tumour is sporadic, not associated with other diseases; in the remainder it is associated with so-called Multiple Genetic Syndromes, neuroendocrine tumours with which pituitary or parathyroid tumours may be associated.

At what age does gastrinoma arise

The disease usually arises between the ages of 20 and 40, with no difference between males and females.

Gastrinoma is hereditary only in Multiple Neuroendocrine Neoplasms, with autosomal dominant transmission.

How Zollinger-Ellison syndrome is diagnosed

The diagnosis is made because the patient turns to the doctor who, seeing the symptomatology compatible with that of a peptic ulcer, prescribes a gastroscopy.

Unlike common ulcers, due to drug abuse or bad habits, in the case of Zollinger-Ellison syndrome there is not a single ulcer, but a multiplicity of ulcers.

The histological examination of these ulcers does not serve for the diagnosis of gastrinoma, which is instead detected by taking gastrin, a painless test that usually shows very high values in patients with this syndrome.

Second-level examinations such as CT and PET scans will be decisive in identifying lesions that produce this hormone.

Gastrinoma is a very rare and generally well-differentiated disease

This means that it tends to have a good prognosis, especially when associated with Multiple Genetic Syndromes.

Treatment involves the administration of proton pump inhibitors (pantoprazole and its derivatives), combined with gastroprotectors.

If the gastrinoma lesion is unique and not metastatic, surgical removal is possible, to which radiological and chemotherapeutic treatment can be added if it is a metastatic lesion, depending on the degree of the pathology.

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