The Challenging Case of a Patient With Recurrent Unexplained Abdominal Pain: A Journey Through Cronhʼs, Porphyria, Nephrolithiasis, Shingles, and Other Zebras

Abstract

We present a patient with recurrent abdominal pain and a challenging journey to find an answer to his debilitating symptoms. Through years of struggling with pain and diagnostic dilemmas, we were faced with a history of appendectomy, cholecystectomy, episodes of pancreatitis, nephrolithiasis, abdominal shingles, Crohn's disease, concern for drug seeking behavior, Irritable Bowel Syndrome, depression, recurrent hospitalizations, multiple colonoscopies, innumerable negative stool studies, a rare diagnosis of porphyria (but not the abdominal pain causing type), and finally, this arduous chase yielded a diagnosis of eosinophilic enterocolitis, another rare disease. 36 year old male with history of Crohn's disease, multiple hospitalizations for abdominal pain, cholecystectomy, and appendectomy was admitted for yet another recurrence of abdominal pain and worsening of chronic diarrhea. Objective diagnostic work-up, including an abdominal CT and other bloodwork, did not show supportive evidence for Crohn's flare. Tenderness on light touch and multiple requests for Dilaudid alerted the medical team for drug seeking behavior. However, other objective findings triggered a broader differential: a low MCV without anemia, elevated iron with normal ferritin, dark urine, history of recurring photosensitivity facial rash, a clean record on Eforcse, and the patient's long journey to find an answer for his gastrointestinal disturbances. On further review of outside records: a series of panendoscopies with no major findings, intestinal biopsies showing intermittent signs of diffuse chronic inflammation, extensive testing for chronic diarrhea, cholecystectomy of a non-inflamed and acalculous gallbladder, appendectomy, abdominal shingles, pancreatitis, nephrolithiasis and multiple frustrated doctor's notes, the answer to our enigma was thought to be found in the form of a positive porphyria work up! However, the test for acute exacerbation returned with undetectable porphyrin levels while the patient continued to be symptomatic. Despite our current disappointment, the diagnosis of porphyria was confirmed reliably at two different occasions in the past, with testing to rule-out other causes of elevated porphyrins and a pathologist interpretation of Porphyria Cutanea Tarda. In the quest to uncover the etiology to his chronic abdominal pain, porphyria was found, but not the kind that presents with abdominal pain. In the meantime, the pathology report from panendoscopy returned with findings consistent with eosinophilic enterocolitis; another rare disease, but one that finally explained his current symptoms. After ruling out celiac disease, patient was started on food elimination diet to identify trigger foods since the major cause of eosinophilic enterocolitis is food sensitivity.