Larkin Community Hospital Hialeah, FL, United States
Luis A. Gil, DO1, Mukesh Sharma, DO1, Monica Multani, DO2, Andrew Dam, DO1, Karthik Mohan, DO2 1Larkin Community Hospital, Hialeah, FL; 2Larkin Community Hospital, South Miami, FL
Introduction: In many cases, Myotonic Dystrophy (DM) Type 1 and 2 have abnormal liver enzymes. Few cases of Myotonic Dystrophy 1 and 2 have been reported with liver cirrhosis. To our knowledge, there have been no reported cases of porcelain gallbladder in DM. We describe here a patient with DM1 associated with cirrhosis and porcelain gallbladder.
Case Description/Methods: A 47 year old male presents to hospital with massive ascites and history of DM1, cirrhosis, HIV, HTN and atrial fibrillation. He denied alcohol, tobacco, or illicit drug abuse. Family history was remarkable for DM1 including maternal grandmother and two brothers. His exam revealed massive ascites, icteric mucous membranes, and generalized muscle weakness. Liver enzymes were AST 53, ALT 13, Alkaline phosphatase 73, bilirubin 6.7, ammonia 76, INR 1.5, MELD score 23, Child Pugh score 13 (class C). Abdominal US and CT abdomen showed shrunken nodular liver, massive ascites, calcified gallbladder suggestive of porcelain gallbladder with concerns of cholecystitis. Paracentesis with fluid analysis was negative for SBP. Acute hepatitis panel was negative. His hospital course was complicated with hyperbilirubinemia, acute respiratory failure requiring mechanical ventilation, cardiac conduction abnormalities requiring a transthoracic pacer. Given his critical condition, he was placed on hospice and passed away after extubation.
Discussion: DM1 is an autosomal dominant disease and in most cases are associated with liver enzyme abnormalities [Rönnemaa, Achiron], however, there are only a few reported with non-alcoholic liver cirrhosis. There does not appear to be a pathogenesis for porcelain gallbladder as there are no reported cases of porcelain gallbladder in DM1. Given the strong family history and the pathology of his DM1 with elevated liver enzyme elevation, his DM1 is likely the primary culprit of his liver cirrhosis. It is unclear if this is also the culprit of his porcelain gallbladder, which is a unique case. Due to higher risk for liver disease, DM1 patients should be closely monitored and managed early on upon the diagnosis.
Rönnemaa, T., Alaranta, H., Viikari, J., et al. Increased activity of serum gamma-glutamyltransferase in myotonic dystrophy. Acta Med. Scand. 222, 267–273 (1987).
Achiron, A., Barak, Yoram, Magal, Nurit et al. Abnormal liver test results in myotonic dystrophy. J. Clin. Gastroenterol. 26, 292–295 (1998).
Figure: CT abdomen and pelvis without contrast, depicting calcifications suggestive of porcelain gallbladder, cirrhotic appearance of the liver with moderate abdominal ascites. (Orange arrow)
Disclosures: Luis Gil indicated no relevant financial relationships. Mukesh Sharma indicated no relevant financial relationships. Monica Multani indicated no relevant financial relationships. Andrew Dam indicated no relevant financial relationships. Karthik Mohan indicated no relevant financial relationships.
Luis A. Gil, DO1, Mukesh Sharma, DO1, Monica Multani, DO2, Andrew Dam, DO1, Karthik Mohan, DO2. P0077 - A Rare Case of Myotonic Dystrophy Type 1 With Cirrhosis and Porcelain Gallbladder, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.