P1029 - A 70-Year-Old Patient With Elevated Liver Enzymes for Many Years and No Fibrosis: An Unusual Diagnosis

Pradeep Yarra, MD, MSc¹, Dema Yaseen Alsabbagh, MD², Eyad Z. Gharaibeh, MD³, Mohammed Eyad Alsabbagh, MD^4
1Saint Louis University Hospital, St. Louis, MO; ²Washington University in St. Louis, St. Louis, MO; ³Saint Louis University, St. Louis, MO; ⁴Saint Louis University, Ballwin, MO

Introduction: Turner syndrome (TS) is characterized by complete or partial lack of an X chromosome in women (45,X and other karyotypes) manifests with varied multiorgan dysfunction along with elevated liver enzymes. We present this unique case of TS diagnosed at age 71.

Case Description/Methods: 71-year-old female was referred by gastroenterology to our Hepatology clinic for chronically elevated liver enzymes after extensive workup. Her medical history includes hypothyroidism on Levothyroxine, primary bilateral sensorineural hearing loss with cochlear implants, mitral and aortic regurgitation with mitral valve prolapse, dyslipidemia, and osteoporosis. She had no history of alcohol intake and no symptoms or signs of advanced liver disease. Family history included a sibling with celiac disease. Review of her recent liver function tests revealed normal total bilirubin, albumin, prothrombin time but elevated alanine transaminase at 112 U/L, aspartate transaminase 55 U/L, alkaline phosphatase at 231 U/L. Review of records show elevated enzymes since at least 2013 with the similar pattern and ALT range of 90-200 consistently. Iron panel, ferritin, alpha 1 antitrypsin, ceruloplasmin, immunoglobulins, hepatitis panel, celiac and autoimmune liver diseases work up was negative. Thyroid profile showed thyroid stimulating hormone elevated at 5.7 but normal T4 levels. Fibro scan done at the time of visit revealed low probability of advanced fibrosis (4 kPa) with mild steatosis. After the fibro scan, further history revealed hearing loss since age 30 years, h/o amenorrhea requiring hormone replacement therapy. Physical exam was significant for a short stature (147 cm) and diastolic murmur. With significant history and exam, patient was consented for chromosomal analysis which revealed monosomy X or 45, X with mosaicism for isodicentric chromosome, which was diagnostic of TS at age 71. Patient was referred to Endocrinology for further evaluation of hypothyroidism and Genetic counselling.

Discussion: TS is a rare disease with a median age of diagnosis of 15 years and a reported prevalence of elevated liver enzymes in 20 to 80% of the cases. Many patients with TS who have unexplained elevated liver enzymes don’t develop fibrosis or cirrhosis which has triggered the more in-depth review of systems in this patient. This case reiterates the age-old significance of clinical history and comprehensive physical examination in our daily practice.


Disclosures:


Pradeep Yarra, MD, MSc¹, Dema Yaseen Alsabbagh, MD², Eyad Z. Gharaibeh, MD³, Mohammed Eyad Alsabbagh, MD⁴. P1029 - A 70-Year-Old Patient With Elevated Liver Enzymes for Many Years and No Fibrosis: An Unusual Diagnosis, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.