Case history
Case history #1
A 35-year-old man presents with a history of dark brown urine occurring at night and clearing by midday. During the episodes, he is fatigued and has esophageal spasm. Physical exam is normal except for pallor. Hemoglobin is 8.5 g/dL, WBC is 4500/microliter, platelet count is 130,000/microliter, and reticulocyte count is 356,000/microliter. Serum LDH is 2340 U (normal <250 U), serum creatinine is 1.5 mg/dL, and other laboratory values are normal.
Case history #2
A 23-year-old man with a history of aplastic anemia beginning at age 17 years, and successfully treated with antithymocyte globulin and cyclosporine, presents with diminished energy. He has no history of dark-colored urine. He reports moderate abdominal pain lasting 2-3 days for 2 months. His physical exam is normal except for pallor and an elevated heart rate. Hemoglobin is 7.3 g/dL, hematocrit is 27%, reticulocyte count is 167,000/microliter, WBC is 2700/microliter, and platelet count is 76,000/microliter.
Other presentations
Paroxysmal nocturnal hemoglobinuria (PNH) may present in the setting of low-risk myelodysplastic syndrome, particularly the hypocellular variety. Other presentations include the occurrence of unusual thrombosis, such as hepatic vein, portal vein, or cerebral sinus thrombosis. Although functional asplenia is common in some types of chronic hemolytic anemias (i.e., sickle cell anemia), it has rarely been described in PNH. In some patients, smooth muscle dystonias may be the first symptom, manifesting as esophageal spasm, abdominal pain, or erectile dysfunction. Hemoglobinuria is a presenting symptom in <25% of patients.
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