Free sample case · CQ-2167

A 59-Year-Old Female with Episodic Facial Flushing, Frequent Watery Diarrhea and Abdominal Cramping

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Patient presentation

A 59-year-old female presents with an 8-month history of sudden facial redness accompanied by a burning sensation. She reports 6 to 8 watery, non-bloody bowel movements daily that occur independent of food intake.

Investigations

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Additional medical history

Patient states that she was treated with loperamide and anti-histamines without control of flushing or bowel frequency. She is post-menopausal for 7 years and tried hormone replacement therapy without effect on her red face spells. She takes no other medications.

Flushing triggers
Alcohol, red wine, aged cheese, stress
Nocturnal diarrhea
Persists during fasting/sleep
HRT response
No effect on cutaneous flushing

Physical examination

Physical examination during an episode demonstrates intense erythema and warmth over the face, neck, and upper chest without sweating (dry flush). Abdominal examination reveals a firm, non-tender 4 cm hepatomegaly. Auscultation reveals bilateral mild expiratory wheezes.

Cutaneous examination
Bright red-purple dry flushing
Abdominal examination
Firm nodular hepatomegaly
Chest auscultation
Bilateral mild expiratory wheezing

ECG

Electrocardiogram demonstrates normal sinus rhythm with sinus tachycardia at 92 bpm during flushing episode.

Rhythm & rate
Sinus tachycardia, 92 bpm
ECG intervals
Normal PR and QRS, QTc 422 ms

Laboratory investigations

Laboratory testing demonstrates markedly elevated 24-hour urinary serotonin metabolic end-product excretion and elevated serum Chromogranin A levels.

24h urinary metabolite
84 mg/24h (markedly elevated > 15)
Serum Chromogranin A
640 ng/mL (elevated > 100)
Serum TSH
2.1 mIU/L
Complete blood count
Hemoglobin 13.1 g/dL

Radiology

Multiphasic abdominal CT reveals a 2.2 cm hypervascular primary mass in the terminal ileum with mesenteric fibrosis/desmoplasia and multiple hypervascular liver metastases. Gallium-68 DOTATATE PET-CT shows high somatostatin receptor expression.

Abdominal CT scan
Ileal mass, mesenteric fibrotic changes
Liver CT findings
Multiple hypervascular hepatic lesions
68Ga-DOTATATE PET/CT
Intense uptake in ileum & liver lesions

The answer

Small intestinal neuroendocrine tumor (NET) with carcinoid syndrome

Carcinoid syndrome is a paraneoplastic syndrome caused by systemic release of vasoactive substances (serotonin, histamine, bradykinin, prostaglandins) from a neuroendocrine tumor, most commonly originating in the distal ileum with liver metastases.

Key points

Presentation

Presents with episodic dry flushing (cutaneous vasodilation), secretory nocturnal diarrhea, abdominal cramping, bronchospasm (wheezing), and eventual carcinoid heart disease.

Pathophysiology

Circulating serotonin stimulates gastrointestinal motility and intestinal fluid secretion causing secretory diarrhea, while bradykinin and histamine cause cutaneous vasodilation (flushing) and bronchospasm.

Etiology

Primary gastrointestinal NETs release serotonin into the portal vein, where it is metabolized by hepatic monoamine oxidase. When hepatic metastases develop (or extraportal drainage occurs), vasoactive humors escape hepatic clearance directly into systemic circulation.

Diagnostics

Diagnosis is confirmed by elevated 24-hour urinary 5-hydroxyindoleacetic acid (5-HIAA) levels (end-product of serotonin metabolism), elevated serum Chromogranin A, CT/MRI localization, and 68Ga-DOTATATE PET-CT imaging.

Differential diagnosis

Differential diagnoses include menopausal hot flashes, systemic mastocytosis, pheochromocytoma, medullary thyroid cancer, and irritable bowel syndrome.

Management in this case

Initiate long-acting somatostatin analog therapy (lanreotide or octreotide LAR) and obtain an echocardiogram.

Symptom control and disease stabilization require long-acting somatostatin analogs (octreotide LAR or lanreotide), along with telotristat ethyl (tryptophan hydroxylase inhibitor) for refractory diarrhea, surgical resection, or liver-directed therapies.

Complications

Complications include carcinoid crisis (life-threatening hypotension, arrhythmia, and bronchospasm during surgery/stress), carcinoid heart disease (right-sided valvular lesions), severe bowel obstruction due to mesenteric desmoplasia, and pellagra (niacin deficiency).

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Last updated 22 October 2026. Medical education only: all cases are simulated and must not guide real patient care.