Differential Diagnosis for a Young Patient with Easy Bruising and Prolonged Bleeding Time
Single Most Likely Diagnosis
- Hereditary Spherocytosis: This condition is characterized by a family history of anemia, easy bruising, and prolonged bleeding time, which matches the patient's presentation. The lab findings of low hemoglobin (Hb), high bilirubin, high lactate dehydrogenase (LDH), and low hematocrit (HCT) are consistent with hereditary spherocytosis, a disorder where red blood cells are destroyed prematurely.
Other Likely Diagnoses
- Sickle Cell Disease (SCD): Given the family history of a blood disease and symptoms like easy bruising, SCD is a plausible diagnosis. However, the lack of specific mention of sickle-shaped red blood cells or crises makes it less likely than hereditary spherocytosis.
- Thalassemia: This is another genetic disorder affecting hemoglobin production, which could explain the low Hb and high bilirubin levels. Thalassemia major often presents early in life with severe anemia, which could align with the patient's symptoms.
Do Not Miss Diagnoses
- Immune Thrombocytopenic Purpura (ITP): Although the primary issue seems to be related to red blood cells, ITP could cause easy bruising and prolonged bleeding time due to low platelet count. It's crucial to rule out ITP due to its different management approach.
- Von Willebrand Disease: This is the most common hereditary coagulation abnormality, which could explain the prolonged bleeding time. It's essential to consider this diagnosis to avoid missing a condition that requires specific management.
Rare Diagnoses
- Hereditary Elliptocytosis: A rare disorder characterized by elliptically shaped red blood cells, which could lead to hemolytic anemia and some of the patient's symptoms.
- Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: This condition can cause episodes of hemolytic anemia, especially triggered by certain medications or infections, and could be considered if other diagnoses are ruled out, especially given the high bilirubin and LDH levels indicating hemolysis.