Differential Diagnosis for Elevated Creatinine Kinase, Elevated Liver Enzymes, and Weakness in Lower Extremity
Single Most Likely Diagnosis
- Muscular Dystrophy: This condition is characterized by progressive muscle weakness and degeneration, often presenting with elevated creatinine kinase (CK) levels due to muscle damage. Elevated liver enzymes can sometimes be seen due to secondary effects on the liver or as part of a broader syndrome. The weakness in the lower extremity is consistent with the typical presentation of muscular dystrophy.
Other Likely Diagnoses
- Polymyositis/Dermatomyositis: These are inflammatory muscle diseases that can cause muscle weakness, particularly in the lower extremities, and elevated CK levels. While liver enzyme elevation is not a primary feature, it can occur due to concurrent autoimmune hepatitis or other liver conditions.
- Rhabdomyolysis: This condition involves the breakdown of muscle tissue, leading to elevated CK levels and potentially causing weakness. It can also result in elevated liver enzymes due to the release of muscle breakdown products into the bloodstream. Rhabdomyolysis can be caused by various factors, including intense physical activity, certain medications, or drug abuse.
- Toxic Myopathy: Certain toxins and drugs can cause muscle damage, leading to elevated CK levels and weakness. Some of these substances can also affect the liver, resulting in elevated liver enzymes.
Do Not Miss Diagnoses
- Acute Hepatic Porphyrias: Although rare, these disorders can present with abdominal pain, neurological symptoms (including muscle weakness), and elevated liver enzymes. Some forms can also lead to elevated CK levels due to muscle involvement.
- Vitamin D Deficiency: Severe vitamin D deficiency can cause muscle weakness and elevated CK levels. While not typically associated with significant liver enzyme elevation, it's a condition that should not be missed due to its potential for significant morbidity if left untreated.
- Hypothyroidism: This condition can cause muscle weakness and elevated CK levels. Some patients with hypothyroidism may also have elevated liver enzymes, making it a diagnosis that should be considered to avoid missing a treatable cause of symptoms.
Rare Diagnoses
- Mitochondrial Myopathies: These are a group of disorders that affect the mitochondria, leading to muscle weakness and potentially elevated CK levels. Some forms can also involve the liver, resulting in elevated liver enzymes.
- Glycogen Storage Diseases: Certain types of glycogen storage diseases can cause muscle weakness, elevated CK levels, and liver enzyme elevations due to the accumulation of glycogen in muscles and the liver.
- Inflammatory Myopathies due to Infectious Causes: Rarely, infections such as HIV, toxoplasmosis, or trichinosis can cause inflammatory myopathy, leading to muscle weakness and elevated CK levels, with potential liver involvement.