Differential Diagnosis for Recurrent Rhabdomyolysis with Elevated ALT and AST, Anemia, and Thrombocytosis
- Single Most Likely Diagnosis
- McArdle's Disease (Glycogen Storage Disease Type V): This condition is characterized by recurrent episodes of rhabdomyolysis, often triggered by exercise. Elevated liver enzymes (ALT and AST) can occur due to muscle damage. Anemia and thrombocytosis may be secondary to chronic inflammation and muscle breakdown.
- Other Likely Diagnoses
- Statin-induced Myopathy: Statin use can lead to rhabdomyolysis, elevated liver enzymes, and changes in blood cell counts. The presence of anemia and thrombocytosis could be related to the underlying condition being treated with statins or a side effect of the medication itself.
- Hypothyroidism: Severe hypothyroidism can cause muscle damage leading to rhabdomyolysis. Elevated liver enzymes and alterations in blood cell counts, including anemia and thrombocytosis, can also be seen in hypothyroidism due to its systemic effects.
- Do Not Miss Diagnoses
- Malignant Hyperthermia: Although rare, this condition can present with rhabdomyolysis and elevated liver enzymes after exposure to certain anesthetics or muscle relaxants. Anemia and thrombocytosis might occur due to severe muscle breakdown and systemic inflammation. It's critical to identify this condition due to its high mortality rate if not promptly treated.
- Sickle Cell Trait/ Disease: Sickle cell crisis can lead to rhabdomyolysis, and patients may have elevated liver enzymes. Anemia is a hallmark of sickle cell disease, and thrombocytosis can occur as a reactive process.
- Rare Diagnoses
- Mitochondrial Myopathies: These are a group of disorders affecting the mitochondria, leading to muscle weakness and, in some cases, rhabdomyolysis. Elevated liver enzymes and changes in blood cell counts can occur due to the systemic nature of these diseases.
- Danon Disease: A rare X-linked dominant disorder characterized by cardiomyopathy, myopathy, and intellectual disability. It can present with rhabdomyolysis and elevated liver enzymes, along with anemia and thrombocytosis due to its multi-systemic involvement.