Differential Diagnosis for Markedly Elevated CPK and Liver Enzymes
Single Most Likely Diagnosis
- Drug-induced liver injury (DILI) and rhabdomyolysis: Given the patient's history of taking multiple medications (lamotrigine, metformin, and terzepatide), it is plausible that one of these drugs could be causing liver enzyme elevations. The combination of elevated CPK (indicative of muscle damage) and liver enzymes suggests a possible drug-induced effect that affects both liver and muscle tissues.
Other Likely Diagnoses
- Viral hepatitis: Although not directly linked to elevated CPK, viral hepatitis can cause significant elevations in liver enzymes. The presence of markedly elevated CPK could be incidental or related to a systemic viral infection affecting muscle tissue.
- Autoimmune hepatitis: This condition can cause elevated liver enzymes and, in some cases, may be associated with muscle enzyme elevations due to systemic inflammation.
- Thyroid disorders: Both hyperthyroidism and hypothyroidism can lead to elevations in CPK and liver enzymes, especially if the condition is severe and untreated. Given the patient's history of PCOS, there might be an underlying metabolic or hormonal imbalance contributing to thyroid dysfunction.
Do Not Miss Diagnoses
- Wilson's disease: A genetic disorder leading to copper accumulation in the liver and other tissues. It can cause liver enzyme elevations and, in rare cases, muscle damage indicated by elevated CPK. Although rare, missing this diagnosis could be catastrophic due to the potential for severe liver damage and neurological symptoms.
- Acute intermittent porphyria: A group of disorders that can lead to acute episodes of neurological symptoms, abdominal pain, and potentially elevated liver enzymes and CPK due to muscle involvement. This condition is rare but critical to diagnose due to its potential for severe neurological complications.
Rare Diagnoses
- McArdle disease (Glycogen storage disease type V): A rare genetic disorder affecting muscle glycogen metabolism, leading to elevated CPK levels after exercise. While it primarily affects muscle, there could be secondary effects on liver enzymes.
- Danon disease: A rare X-linked dominant disorder characterized by cardiomyopathy, skeletal myopathy, and intellectual disability, with potential elevations in both CPK and liver enzymes due to the multisystem nature of the disease.
- Mitochondrial myopathies: A group of disorders affecting the mitochondria, which can lead to elevated CPK and, in some cases, liver enzyme elevations due to the systemic nature of mitochondrial dysfunction.