Severe mixed-type iron overload in alcoholic cirrhosis related to advanced spur cell anemia.

A 60-year-old patient with a history of alcoholic cirrhosis (Child-Pugh score C), diabetes mellitus and ongoing alcohol intake presented to the emergency departed with hypoxemic dyspnoea in the presence of ascites and peripheral edema. Laboratory data indicated acute renal insufficiency with preserved natriuresis (creatinine 3.7 mg/dL, normal 0.71.2; urea 117 mg/dL, normal 10-50; 24 h urine sodium 164 mmol/L, normal 30-300). In the absence of protein and erythrocytes in urine, this was, retrospectively, considered to be due to decompensated portopulmonary hypertension (right ventricular systolic pressure > 50 mmHg after establishing euvolemia) and responded favourably to diuretic treatment. Bidirectional endoscopy yielded grade I esophageal varices and portal gastropathy without signs of bleeding. International normalized ratio was elevated to 1.85 and serum bilirubin was 25.8 mg/dL (normal < 1.2; direct bilirubin 8.8 g mg/dL, normal < 0.3). Aspartate aminotransferase was moderately raised to 93 U/L (normal 10-50), while alanine aminotransferase, gamma-glutamyltransferase and alkaline phosphatase activities were within normal ranges as were leukocyte count and C-reactive protein. Erythrocyte-related markers were as follows: hemoglobin 6.1 g/dL (normal 14-18), hematocrit 18% (normal 41-55), mean corpuscular hemoglobin 36 pg (normal 27-33) and mean corpuscular volume 106 fL (normal 80-99). Reticulocyte count and lactate dehydrogenase were raised with 5.5 % (normal < 1.5) and 836 U/L (normal 0-262), respectively. Of note, haptoglobin was below the detection limit, but represents an unreliable hemolysis marker in advanced cirrhosis. Yet, while Coombs test was negative, a diagnosis of chronic hemolysis was unequivocally established by detection of free hemoglobin after gentle venipuncture. Thus, a peripheral blood smear was ordered and demonstrated marked poikilocytosis with abundant atypical erythrocytes with multiple spiculae-like projections, consistent with the diagnosis of advanced spur cell anemia (SCA) in the setting of decompensated alcoholic cirrhosis (Figure 1). Given markedly raised ferritin levels (4,683 ng/ mL, normal 30-400) and transferrin saturation (99%, normal 16-45), genotyping of the hemochromatosis (HFE) gene was performed, and yielded a heterozygous state for the mutation p.C282Y, thus genetically excluding a diagnosis of classic hemochromatosis. However, with respect to iron status markers it has to be noted that the patient had received > 5 units of packed erythrocytes on an outpatient basis elsewhere before, complicated by the