Differential Diagnosis for Elevated Ferritin, Low Iron Saturation, and Low Iron Level
When considering a patient with high ferritin, low iron saturation, and low iron level, along with a normal CBC, the following differential diagnoses can be organized into categories:
Single Most Likely Diagnosis
- Anemia of Chronic Disease (ACD): This condition is characterized by elevated ferritin levels due to inflammation, low iron saturation because the iron is sequestered and not available for erythropoiesis, and low iron levels. The body's inflammatory response leads to increased hepcidin, which reduces iron release from stores, resulting in low serum iron despite high ferritin.
Other Likely Diagnoses
- Chronic Inflammatory Conditions: Conditions like rheumatoid arthritis, lupus, or chronic infections can lead to elevated ferritin due to inflammation and low iron availability for erythropoiesis, similar to ACD.
- Obesity: Obesity is associated with chronic inflammation, which can lead to elevated ferritin levels. The inflammation can also affect iron metabolism, leading to low iron saturation and levels.
- Metabolic Syndrome: This condition, often associated with obesity, can also lead to chronic inflammation and alterations in iron metabolism, resulting in the observed lab findings.
Do Not Miss Diagnoses
- Hemophagocytic Lymphohistiocytosis (HLH): Although rare, HLH is a life-threatening condition that can present with elevated ferritin (often very high), low iron saturation, and low iron levels due to the consumption of iron by the activated macrophages. It requires prompt diagnosis and treatment.
- Malignancies: Certain cancers can lead to elevated ferritin and altered iron metabolism. While not the most common cause, missing a diagnosis of malignancy could have severe consequences.
Rare Diagnoses
- Hereditary Hemochromatosis with Inflammation: While hereditary hemochromatosis typically presents with high iron saturation, the presence of an inflammatory condition could potentially lead to low iron saturation and levels despite high ferritin.
- Porphyria Cutanea Tarda: This rare disorder can lead to elevated ferritin levels, and some patients may have alterations in iron metabolism, although it's less commonly associated with the specific pattern of low iron saturation and levels.
- Still's Disease (Adult-Onset Juvenile Rheumatoid Arthritis): Characterized by high fevers, rash, and arthritis, Still's disease can lead to very high ferritin levels and altered iron metabolism, fitting the described lab pattern.