Differential Diagnosis for Elevated Liver Enzymes in a Patient with Muscular Dystrophy
Single Most Likely Diagnosis
- Muscular dystrophy-related liver enzyme elevation: Many forms of muscular dystrophy, such as Duchenne muscular dystrophy and Becker muscular dystrophy, are associated with elevated liver enzymes due to muscle damage and release of muscle enzymes into the bloodstream, which can also affect the liver.
Other Likely Diagnoses
- Statins or other medication-induced liver injury: Patients with muscular dystrophy may be on statins for related cardiac issues or other medications that can cause liver enzyme elevations.
- Metabolic disorders associated with muscular dystrophy: Certain metabolic disorders, such as Pompe disease, can present with both muscular dystrophy and liver enzyme elevations.
- Viral hepatitis: Common causes of elevated liver enzymes that can affect anyone, including those with muscular dystrophy.
Do Not Miss Diagnoses
- Wilson's disease: A genetic disorder that leads to copper accumulation in the liver and can cause liver enzyme elevation; it's crucial to diagnose early to prevent irreversible liver damage.
- Alpha-1 antitrypsin deficiency: A genetic disorder that can cause liver disease and might be associated with muscular dystrophy in some cases.
- Autoimmune hepatitis: Although less common, autoimmune hepatitis can present with elevated liver enzymes and requires prompt treatment to avoid severe liver damage.
Rare Diagnoses
- Glycogen storage diseases: Rare genetic disorders that affect glycogen metabolism and can lead to liver enzyme elevations.
- Mitochondrial myopathies: A group of disorders that affect the mitochondria and can present with muscular dystrophy and liver enzyme elevations.
- Lysosomal storage diseases: Other rare genetic disorders that can affect multiple systems, including the liver, and present with elevated liver enzymes.