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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Role of CPK in Differential Diagnoses of Isolated ...
Role of CPK in Differential Diagnoses of Isolated Elevated Hepatic Transaminases to Uncover Occult Myopathies
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Pdf Summary
This document discusses the role of creatine kinase (CPK) in diagnosing occult myopathies in patients with isolated elevated liver enzymes. It starts by explaining that transaminases, such as alanine transaminase (ALT) and aspartate transaminase (AST), are not specific to the liver and can be raised in various conditions. The document then presents four cases of pediatric patients who initially presented with elevated transaminases and were eventually diagnosed with limb-girdle muscular dystrophies. In each case, CPK testing played a crucial role in reaching the correct diagnosis. The document highlights the importance of considering muscle disorders in patients with isolated transaminitis and suggests including CPK in the initial workup for elevated transaminases to avoid delays in diagnosis and treatment. The document references a review conducted by Andy Lim et al in 2020, which concluded that further research is needed to differentiate liver injury from isolated muscle injury in patients with an isolated rise in aminotransferases. The document also mentions current American College of Gastroenterology guidelines, which primarily focus on investigating liver diseases and are less specific regarding extrahepatic causes of transaminitis. Finally, it emphasizes the importance of considering muscle disorders when elevated hepatic transaminases are present without any evident cause of liver injury.
Asset Subtitle
Presenting Author - Beena Thomas, MBBS; Co-Author - Maryam Banikazemi, MD; Co-Author - Nizar Tangour, MD;
Meta Tag
Clinical History
Gastrointestinal System
Lysosomal Diseases
Musculoskeletal system
Co-Author
Maryam Banikazemi, MD
Co-Author
Nizar Tangour, MD
Presenting Author
Beena Thomas, MBBS
Keywords
creatine kinase
occult myopathies
transaminases
ALT
AST
limb-girdle muscular dystrophies
transaminitis
aminotransferases
muscle disorders
liver injury
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