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A 34-year-old woman presents with fatigue, weakness, shortness of breath, nosebleeds, bruising, and abdominal pain. On physical exam, her skin is pale; you note abdominal tenderness, an enlarged spleen, sternal tenderness, and an irregular, rapid heartbeat. Labs reveal an anemia, high reticulocyte count, and an elevated bilirubin level. Peripheral blood smear reveals schistocytes.

What is the most likely diagnosis?

User Algife
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Final answer:

The most likely diagnosis for a patient presenting with fatigue, weakness, shortness of breath, nosebleeds, bruising, abdominal pain, anemia, high reticulocyte count, elevated bilirubin level, and schistocytes on a blood smear is a form of hemolytic anemia, such as thalassemia. Differential diagnoses such as autoimmune diseases or microangiopathic hemolytic disorders should also be considered, and further testing is needed for a definitive diagnosis.

Step-by-step explanation:

The symptoms and laboratory findings described are indicative of a condition called hemolytic anemia. The presence of schistocytes (fragmented red blood cells) on a peripheral blood smear, elevated reticulocyte count, and high bilirubin levels suggest that the red blood cells are being destroyed at a rate faster than they can be produced, which is characteristic of this disorder. The additional findings of fatigue, weakness, shortness of breath, nosebleeds, bruising, and abdominal pain, along with an enlarged spleen and sternal tenderness, point towards a severe form of hemolytic anemia. One possibility, given the combination of these symptoms, could be thalassemia, a genetic disorder affecting hemoglobin synthesis and leading to excessive destruction of erythrocytes. However, other conditions such as autoimmune diseases or microangiopathic hemolytic disorders like thrombotic thrombocytopenic purpura (TTP) or hemolytic uremic syndrome (HUS) should be considered as differential diagnoses as well.

Further tests should be conducted to confirm the diagnosis, which may include a Coombs test to evaluate for autoimmune hemolytic anemia, molecular testing for thalassemia, or other specialized assays based on clinical suspicion.

User Noan Cloarec
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