A 17-year-old male with a Small Bowel Neuroendocrine Tumor: flushing differential diagnosis

Abstract

BackgroundNeuroendocrine tumors (NETs) are heterogeneous neoplasms that originate from cells with a secretory function. Small bowel NETs (SB-NETs) are related to serotonin hypersecretion which causes: flushing, diarrhea, abdominal pain, bronchoconstriction and heart involvement, also known as carcinoid syndrome (CS). CS can be confused with an allergic reaction and thus should be considered as a differential diagnosis in the allergy consult. We present the case of a pediatric patient initially referred under the suspicion of food allergies.Case presentationWe present the case of a 17-year-old male with evanescent non-pruriginous erythematous lesions- flushing that appeared with food consumption, associated with conjunctival injection, warmth and diaphoresis after the lesions disappeared. He denied abdominal pain, diarrhea, cough or wheezing. The 24-h urinary 5-hydroxyindoleacetic acid (5-HIAA) excretion was elevated. The CT scan showed thickening of the distal ileum and multiple lesions on both hepatic lobules and the colonoscopy revealed a tumor in the ileocecal valve. Hepatic and intestinal biopsies reported a well-differentiated NET of the ileocecal valve with hepatic metastasis. He was started on octreotide and underwent a wide hepatectomy and right hemicolectomy with improvement of symptoms.ConclusionsNETs can present as carcinoid syndrome (flushing, diarrhea, abdominal pain, wheezing), which constitutes vague symptomatology and represents a challenging diagnosis for physicians. They can be confused with an allergic reaction and the allergist should consider it as a differential diagnosis. Accurate diagnostic tests will help to diagnose NETs earlier and potentially prevent carcinoid heart disease, bowel obstruction, and improve quality of life and mortality in these patients.

Carcinoid Heart Disease: Prognostic Value of 5-Hydroxyindoleacetic Acid Levels and Impact on Survival: A Systematic Literature Review

“…In addition to these symptoms, it has been reported that approximately half of individuals with CS will develop carcinoid heart disease (CHD), a potentially life-threatening complication [6, 9]. Although the exact pathophysiology of CHD is not well understood, the secretion of hormones and other products from tumours is suspected to lead to the deposition of cardiac plaques, which are primarily found on the right side of the heart (∼90% of cases) [1, 10]. There is currently a lack of consensus regarding the diagnosis, management, and preventative measures for CHD, despite patients having significantly worse life expectancy than those with CS alone [1, 6].…”

From chronic pruritus to neuroendocrine tumor: A case report

“…Cyanotic flushing associated with a burning sensation lasting no more than 1 min is associated with midgut tumors. Tumors with anterior location cause generalized pruritus ( 17 ).…”

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“…An illustrative case is a 35-year-old Hispanic woman from South Texas who suffered from undiagnosed carcinoid syndrome for over a decade, which eventually progressed to severe carcinoid heart disease. Initially, her symptoms were misattributed to more common cardiac conditions, delaying appropriate treatment [9]. This case highlights the necessity for cardiologists to consider carcinoid syndrome in patients presenting with unusual cardiac symptoms like tricuspid regurgitation or right-sided heart failure, particularly when accompanied by systemic symptoms like flushing or diarrhea.…”

“…Further workup found the cause to be a carcinoid tumor manifesting from the patient's right ovary [9]. While the gastrointestinal symptoms associated with carcinoid syndrome, such as abdominal pain, vomiting, and persistent diarrhea, are welldocumented, their prevalence among younger patients remains understudied.…”