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 oesophageal spasm. Physical examination is normal except for pallor. Haemoglobin is 85 g/L (8.5 g/dL), white blood cell count is 4.5×10⁹/L (4500/microlitre), platelet count is 130×10⁹/L (130,000/microlitre), and reticulocyte count is 356×10⁹/L (356,000/microlitre). Serum LDH is 2340 U (normal <250 U), serum creatinine is 132.6 micromol/L (1.5 mg/dL), and other laboratory values are normal.
Case history #2
A 23-year-old man with a history of aplastic anaemia beginning at age 17 years, and successfully treated with antithymocyte globulin and ciclosporin, presents with diminished energy. He has no history of dark-coloured urine. He reports moderate abdominal pain lasting 2 to 3 days for 2 months. His physical examination is normal except for pallor and an elevated heart rate. Haemoglobin is 73 g/L (7.3 g/dL), haematocrit is 0.27 proportion of 1.0 (27%), reticulocyte count is 167×10⁹/L (167,000/microlitre), white blood cell count is 2.7×10⁹/L (2700/microlitre) and platelet count is 76×10⁹/L (76,000/microlitre).
Other presentations
Paroxysmal nocturnal haemoglobinuria (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 haemolytic anaemias (i.e., sickle cell anaemia), it has rarely been described in PNH. In some patients, smooth muscle dystonias may be the first symptom, manifesting as oesophageal spasm, abdominal pain, or erectile dysfunction. Haemoglobinuria is a presenting symptom in <25% of patients.
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