Differential Diagnosis for a 14yo Female with Low Ferritin, AST of 50, Normal Hemoglobin, and Lightheadedness
Single Most Likely Diagnosis
- Iron Deficiency Anemia (IDA) without anemia: Despite having a normal hemoglobin level, low ferritin indicates depleted iron stores. Lightheadedness can be a symptom of iron deficiency, even before anemia develops. The family history of autoimmune disease could suggest a potential for chronic inflammation or autoimmune gastritis leading to iron deficiency.
Other Likely Diagnoses
- Anemia of Chronic Disease: Given the family history of autoimmune diseases, the patient could be in the early stages of a chronic inflammatory condition (e.g., rheumatoid arthritis, lupus) that is affecting iron metabolism and causing symptoms like lightheadedness.
- Hypothyroidism: Although less directly related to low ferritin and AST elevation, hypothyroidism can cause fatigue, lightheadedness, and has an autoimmune component. It's possible that iron deficiency and mild liver enzyme elevation are secondary to hypothyroidism.
- Celiac Disease: An autoimmune condition that can lead to iron deficiency due to malabsorption. Patients with celiac disease may present with nonspecific symptoms like lightheadedness and fatigue.
Do Not Miss Diagnoses
- Wilson's Disease: A genetic disorder leading to copper accumulation in the body, which can cause liver damage (elevated AST) and potentially lead to neurological symptoms and lightheadedness. Although rare, it's critical to diagnose early to prevent irreversible damage.
- Hemochromatosis: Although typically associated with iron overload, early stages or specific genetic mutations could present with low ferritin levels due to regulatory mechanisms. The AST elevation could indicate liver involvement.
- Chronic Blood Loss: Not necessarily related to the AST level, but any form of chronic blood loss (e.g., menstrual, gastrointestinal) could lead to iron deficiency. The presence of lightheadedness suggests significant blood loss.
Rare Diagnoses
- Gaucher's Disease: A genetic disorder that can affect the spleen, liver, and bones, potentially leading to anemia, elevated liver enzymes, and other systemic symptoms.
- Porphyrias: A group of disorders that can result in neurological symptoms, including lightheadedness, and occasionally affect liver function tests.
- Mitochondrial Myopathies: Rare genetic disorders affecting muscle and potentially liver function, leading to a wide range of symptoms including lightheadedness and elevated AST.