Title : Chronic diarrhea? Never overlook gastrointestinal amyloidosis
Abstract:
Introduction: Amyloidosis is an extremely rare disease frequently diagnosed at an advanced stage, resulting in significant morbidity and mortality. Gastrointestinal amyloidosis can present with unintentional weight loss, diarrhea, abdominal pain, malabsorption, gastroesophageal reflux, and GI bleeding. We present a case of chronic diarrhea in a patient with gastrointestinal amyloidosis due to long-standing chronic inflammation.
Case presentation: A 74-year-old female with a past medical history of Hepatitis C with cirrhosis, chronic recurrent bronchiectasis, and MAC complex colonization in the lung, untreated latent tuberculosis, and systemic lupus erythematosus presented with 7-10 episodes of watery diarrhea worsened with food intake and occasionally associated with hematochezia for past four months. She was admitted twice for similar complaints in the past three months. She has had a 20-pound weight loss in 4 months. Stool studies were unremarkable. Gastroenterology was consulted for chronic diarrhea and weight loss. Gastroduodenoscopy revealed gastritis. A colonoscopy revealed erythema and slightly raised mucosa throughout the large bowel. The pathology report from gastric and intestinal mucosa biopsies showed amyloidosis. Serum protein electrophoresis was negative, ruling out primary amyloidosis, indicating likely AA amyloidosis from long-standing inflammation. The patient was started on antiemetic, loperamide, rifampin, and parenteral nutrition, with only a slight improvement in symptoms.
Discussion: Amyloidosis is an extremely rare disease frequently missed or diagnosed at an advanced stage, resulting in significant morbidity and mortality. Amyloidosis develops when abnormal protein fibrils deposit in the mucosa. It can present with unintentional weight loss, diarrhea, abdominal pain, malabsorption, gastroesophageal reflux, and GI bleeding. Secondary AA amyloidosis can be a complication of any long-term inflammatory diseases like collagen diseases and infectious disorders. However, as underlying conditions are better managed, the prevalence of AA amyloidosis is decreasing. Endoscopic appearance is subtle and non-specified, even with extensive amyloid deposition. Congo-red staining on tissue is the gold standard for diagnosing amyloidosis. Treatment should address the symptoms and underlying conditions causing amyloid deposition. Chronic diarrhea and protein-losing enteropathy caused by gastrointestinal amyloid can be treated with long-acting somatostatin analogs or octreotide and total parenteral nutrition. Loperamide, opiates, and empiric antibiotic treatment for small intestinal bacterial overgrowth are other options for diarrhea treatment. The prognosis is influenced by the underlying disease that causes amyloid production. Because of the non-specificity of symptoms that mimic more common conditions, there is a risk of diagnostic delay. Clinicians should thoroughly investigate the gastrointestinal tract in patients with refractory diarrhea and weight loss to rule out gastrointestinal amyloidosis after other diagnoses have been ruled out.
Audience Take Away Notes
- The above case report explains the presentation of gastrointestinal amyloidosis presenting as chronic diarrhea due to long standing inflammation
- This article emphasizes on the evaluation of the causes of chronic diarrhea and amyloidosis being a rare but important cause that needs to be considered
- We describe the causes, work up for chronic diarrhea, diagnosis, and treatment of amyloidosis
