Case Presentation
History
A 45-year-old male presents to the outpatient clinic with a six-month history of nonspecific gastrointestinal symptoms, including epigastric pain, nausea, vomiting, and unintentional weight loss. The patient also reports generalized fatigue, anorexia, and peripheral edema. He denies any history of gastrointestinal bleeding, recent travel, or the use of nonsteroidal anti-inflammatory drugs (NSAIDs) or alcohol.
The patient’s past medical history is unremarkable, with no known family history of gastrointestinal diseases. The patient’s diet is balanced, and he has not noticed any particular foods exacerbating his symptoms.
Physical Examination
On examination, the patient appears moderately distressed, with pallor and mild dehydration. Vital signs reveal a blood pressure of 100/60 mmHg, heart rate of 95 beats per minute, and a temperature of 37.2°C.
Abdominal examination shows mild epigastric tenderness without rebound or guarding. There is no palpable mass or hepatosplenomegaly. Peripheral edema is noted in the lower extremities, suggesting hypoalbuminemia.
Laboratory Investigations
The initial laboratory workup is aimed at assessing the patient’s nutritional status, renal function, and potential underlying causes of the presenting symptoms. The following results are notable:
- Complete Blood Count (CBC):
- Hemoglobin: 10.5 g/dL
- White Blood Cell Count: 7,000/mm³
- Platelet Count: 250,000/mm³
- Serum Albumin:
- 2.1 g/dL (significantly low)
- Liver Function Tests:
- Mildly elevated transaminases
- Serum Electrolytes:
- Normal sodium, potassium, and chloride levels
- Protein Electrophoresis:
- Markedly low total protein and albumin levels
- Fecal Alpha-1 Antitrypsin Clearance Test:
- Elevated, indicating protein-losing enteropathy
Imaging Studies
Given the patient’s symptoms and laboratory findings, imaging studies are conducted to assess the structural integrity of the gastrointestinal tract:
- Upper Gastrointestinal Endoscopy:
- Reveals thickened gastric folds predominantly in the body and fundus of the stomach, with excessive mucus production. Biopsies are taken from these areas.
- Endoscopic Ultrasound (EUS):
- Confirms the presence of thickened gastric mucosa with no evidence of submucosal masses or lymphadenopathy.
- Computed Tomography (CT) Scan:
- Demonstrates pronounced rugal folds in the stomach’s body, consistent with hypertrophic gastropathy.
Histopathological Examination
The gastric biopsies obtained during endoscopy are crucial for establishing the diagnosis:
- Microscopic Analysis:
- Shows marked foveolar hyperplasia with glandular atrophy. The presence of cystic dilation of the gastric glands and the absence of significant inflammation or malignancy are noted.
- Immunohistochemistry:
- Negative for Helicobacter pylori infection.
Final Diagnosis
Based on the clinical presentation, laboratory findings, imaging, and histopathological examination, the patient is diagnosed with Ménétrier’s disease. This diagnosis is confirmed by the characteristic thickening of the gastric mucosa, excessive mucus production, hypoalbuminemia, and histological findings of foveolar hyperplasia and glandular atrophy.
Take away:
Ménétrier’s disease is a rare but significant cause of protein-losing gastropathy. The clinical course can vary from mild symptoms to severe malnutrition. Early recognition and diagnosis are essential to manage symptoms effectively and prevent complications. Treatment often involves supportive care, nutritional support, and, in some cases, medical or surgical intervention to control disease progression.