Multiple endocrine neoplasia type 1: Early diagnosis is very important

Abstract

In this manuscript, we comment on a recent publication by Yuan et al. This article provides a detailed scientific diagnostic process for a multiple endocrine neoplasia type 1 patient, thus offering strong guidance for clinical practice. However, we believe that the authors should also provide information on the patient's long-term prognosis.

Key Words: Multiple endocrine neoplasia type 1; Primary hyperparathyroidism; Gastrinoma; Diagnosis; Prognosis

Core Tip: Due to its rarity and diverse clinical presentations, the early diagnosis of multiple endocrine neoplasia type 1 (MEN1) is challenging. A recent publication by Yuan et al described the detailed diagnostic process of a patient with MEN1 who was diagnosed 1 year after the onset of symptoms. We believe that it is also important to illustrate the long-term prognosis of the patient.

TO THE EDITOR

We read with great interest the article by Yuan et al[1] entitled "Early detection of multiple endocrine neoplasia type 1: A case report". In this article, they detailed the process of the detection and diagnosis of a case of multiple endocrine neoplasia type 1 (MEN1). MEN1 represents a group of clinical syndromes that are both rare and have diverse clinical presentations, thus making diagnosis challenging. It is an autosomal dominant syndrome characterized by the presence of at least two out of the following three manifestations: (1) Hyperparathyroidism; (2) Gastroenteropancreatic neuroendocrine tumours (GEP-NETs); and (3) Pituitary neuroendocrine tumours[2]. In this article, the authors emphasized that clinicians should be aware of the possibility of MEN1 in patients with gastrointestinal symptoms accompanied by hypercalcaemia and elevated serum gastrin levels, and we strongly agree with this recommendation.

MEN1

Primary hyperparathyroidism is the most common and first manifestation of MEN1; however, it is often asymptomatic, with elevated serum calcium levels and urinary stones representing important diagnostic clues[3]. GEP-NETs are the second most common clinical manifestation of MEN1, with gastrinomas being the most frequently observed types of GEP-NETs. Gastrinomas in MEN1 are usually small; moreover, in most cases, they are located in the submucosa of the duodenum and often result in gastrointestinal symptoms such as abdominal pain and diarrhoea[4]. Proton pump inhibitors (PPIs) are effective in treating peptic ulcers caused by gastrinomas, thereby relieving gastrointestinal symptoms[5]. Therefore, if simple intermittent abdominal pain and diarrhoea are considered nonspecific gastrointestinal symptoms, prolonged abdominal pain and diarrhoea combined with the effectiveness of PPIs should be considered as indicating the presence of gastrinoma. When gastrinoma, hypercalcaemia, and urinary stones coexist, MEN1 needs to be considered as a diagnosis, and further genetic testing should be performed to determine if there is a MEN1 gene mutation. Overall, this study provides strong guidance for clinical practice. Its detailed case description and scientific diagnostic process are important for improving the early detection rate and treatment efficacy of MEN1.

On the downside, the article's description of the patient's prognosis was limited to symptomatic improvement of abdominal pain and diarrhoea and did not the patient's longer-term prognosis, such as whether hypercalcaemia still exists, whether parathyroid function had become normalized after surgery, or whether gastrinoma had recurred, among other possible details. Due to the diversity of the prognosis of MEN1, we are very curious about the long-term prognosis of the patient after active treatment in the case of early diagnosis.

CONCLUSION

In conclusion, this case report provides strong clinical guidance for improving the early detection of MEN1; however, information on the patient's long-term prognosis is still needed to aid us in understanding the clinical outcomes of early treatment in MEN1 patients.