A 59-year-old woman presents to her gastroenterologist because of worsening diarrhea and weight loss. She was diagnosed with celiac disease 8 years ago after evaluation for iron deficiency anemia and chronic diarrhea. At that time, duodenal biopsy demonstrated villous atrophy, and her symptoms improved substantially after initiation of a strict gluten-free diet. Over the past 6 months, she has developed recurrent diarrhea, abdominal pain, fatigue, and an unintentional 25-pound weight loss despite careful adherence to her diet. She also reports intermittent fevers and night sweats.
Temperature is 38.1°C (100.6°F), blood pressure is 118/70 mm Hg, pulse is 96/min, and respiratory rate is 16/min. Physical examination reveals a thin woman with mild diffuse abdominal tenderness. Laboratory studies demonstrate the following:
Hemoglobin: 9.8 g/dL
Albumin: 2.7 g/dL
ESR: elevated
CT scan of the abdomen demonstrates circumferential thickening of a segment of the jejunum with associated mesenteric lymphadenopathy.
Which of the following is the most likely diagnosis?
The correct answer is:
A) Enteropathy-associated T-cell lymphoma
This patient has celiac disease and now presents with several alarm features that suggest enteropathy-associated T-cell lymphoma (EATL), a rare but important complication of longstanding celiac disease. The key clues are recurrent symptoms despite adherence to a gluten-free diet, significant weight loss, fevers, night sweats, anemia, and imaging findings demonstrating small bowel thickening with lymphadenopathy.
Most patients with celiac disease improve substantially after eliminating dietary gluten. When a patient whose disease was previously well controlled develops recurrent malabsorptive symptoms accompanied by constitutional symptoms, clinicians must consider complications rather than simply assuming dietary nonadherence. Enteropathy-associated T-cell lymphoma arises from chronic inflammation of the small intestinal mucosa and most commonly involves the jejunum.
A high-yield Step 2 principle is that constitutional symptoms such as fever, night sweats, and substantial weight loss should immediately raise concern for malignancy. In patients with celiac disease, EATL is one of the most important cancers to recognize. Common findings include abdominal pain, diarrhea, weight loss, anemia, intestinal wall thickening, lymphadenopathy, and occasionally bowel perforation.
This question tests a common board concept: distinguishing uncomplicated recurrence of gastrointestinal symptoms from the development of a serious complication requiring further evaluation.
Answer choice B: Irritable bowel syndrome, is incorrect.
IBS may cause chronic abdominal discomfort and altered bowel habits, but it does not cause anemia, fever, night sweats, significant weight loss, or abnormal imaging findings. These alarm features strongly suggest organic disease.
Answer choice C: Pancreatic adenocarcinoma, is incorrect.
Pancreatic cancer can cause weight loss and abdominal pain, but it would not typically explain recurrent malabsorptive symptoms in a patient with celiac disease. Furthermore, the imaging findings localize pathology to the small intestine rather than the pancreas.
Answer choice D: Refractory lactose intolerance, is incorrect.
Secondary lactose intolerance may occur in patients with celiac disease and can cause bloating and diarrhea. However, it does not cause constitutional symptoms, anemia, lymphadenopathy, or bowel wall thickening.
Answer choice E: Small intestinal bacterial overgrowth, is incorrect.
Small intestinal bacterial overgrowth (SIBO) can cause recurrent diarrhea, bloating, and malabsorption. However, fever, night sweats, marked weight loss, and mesenteric lymphadenopathy are much more concerning for lymphoma.
Key Learning Point
Patients with celiac disease who develop recurrent symptoms despite adherence to a gluten-free diet, particularly when accompanied by weight loss, fever, night sweats, anemia, or abnormal imaging findings, should be evaluated for enteropathy-associated T-cell lymphoma.
