P2059 - Unravelling of Oddity and Curiosity in a Case of Fatigue

Sachin Vijayakumar, MBBS, MD, Antony Paul Chettupuzha, MBBS, MD, DM, Roy J Mukkada, MBBS, MD, Abraham Koshy, MBBS, MD, DM, Pushpa Mahadevan, MBBS, MD, Thara Prathap, MBBS, MD, Pradeep George Mathew, MBBS, MD, Maya Peethambaran, MBBS, MD, MRCP, Shelley Chireyath Paul, MBBS, MD, DM, PhD, Jerry Abraham Joseph, MBBS, MD, Greeshma Thomas, MBBS, MD, Hari Mangalath, MBBS, Ebin Thomas, MBBS, Athira M, MBBS, Prinoj Varghese, MBBS, MD
VPS Lakeshore Hospital, Kochi, Kerala, India

Introduction: Diseases with multiorgan involvement often possess a diagnostic challenge to clinicians. Here, we unveil an interesting case of multi-organ involvement and the meticulous journey to its final diagnosis.

Case Description/Methods: A 67-year-old female with diabetes experienced sudden vision blurring, pain, and redness in both eyes in 2009, then diagnosed as bilateral anterior uveitis and was treated with steroid eye drops. She had recurrence of eye symptoms in 2012 and 2018, treated intermittently with oral steroid and steroid eye drops.

In early 2024, she presented with severe fatigue and increased stool frequency (4-5 times/day, Bristol stool chart 5/6). General physical examination was normal, but respiratory examination revealed bilateral fine inspiratory crepitations at lung bases. Liver biochemistry showed elevated alkaline phosphatase (151 U/L) and gamma-glutamyl transferase (148 U/L). MRCP revealed short segment strictures and dilatations in the intrahepatic bile ducts, giving a beaded appearance (figure 1) and a strong suspicion of Primary Sclerosing Cholangitis (PSC) was made.

Given her bowel symptoms, a colonoscopy was done which revealed pancolitis (figure 2). This finding, in conjunction with suspected PSC, led us to consider ulcerative colitis, however we waited for the biopsy report. Respiratory crackles prompted a CT scan of chest which revealed Nonspecific Interstitial Pneumonia (NSIP), and bilateral hilar and right paratracheal lymphadenopathy (figure 3).

Colon biopsies revealed non-necrotizing granulomas with giant cells and Schaumann bodies (figure 4). These findings along with clinical and imaging data, led to a diagnosis of Sarcoidosis. Given the rarity of colonic sarcoidosis, a liver biopsy was done which showed non-necrotizing epithelioid granulomas and her serum angiotensin-converting enzyme level was elevated (80 U/L), which further cemented our diagnosis of sarcoidosis.

Additional tests ruled out other differential diagnoses. Biopsy samples were negative for fungal, periodic acid-Schiff staining and acid-fast bacilli staining. Serum interferon-gamma release assay, and Mantoux test were negative.

Treatment with oral steroids improved her symptoms and normalized liver biochemistry.



Discussion: Gastrointestinal (GI) involvement is a rare extra-thoracic manifestation of sarcoidosis, occurring in less than 2% of cases. Among GI involvement, colonic involvement is even rarer. Sarcoidosis presenting with gastrointestinal symptoms without pulmonary symptoms is extremely rare.



Disclosures:


Sachin Vijayakumar, MBBS, MD, Antony Paul Chettupuzha, MBBS, MD, DM, Roy J Mukkada, MBBS, MD, Abraham Koshy, MBBS, MD, DM, Pushpa Mahadevan, MBBS, MD, Thara Prathap, MBBS, MD, Pradeep George Mathew, MBBS, MD, Maya Peethambaran, MBBS, MD, MRCP, Shelley Chireyath Paul, MBBS, MD, DM, PhD, Jerry Abraham Joseph, MBBS, MD, Greeshma Thomas, MBBS, MD, Hari Mangalath, MBBS, Ebin Thomas, MBBS, Athira M, MBBS, Prinoj Varghese, MBBS, MD. P2059 - Unravelling of Oddity and Curiosity in a Case of Fatigue, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.