Primary Terminal Haemochromatosis in a 50 Year-Old Patient

Abstract

Aim. A clinical description of end-stage hereditary haemochromatosis manifested with chronic alcohol abuse.Key points. A 50-yo patient referred with marked general weakness as a major complaint. The patient had a history of long-term alcohol consumption at toxic doses, putative cirrhosis, paroxysmal atrial fibrillation, type 2 diabetes mellitus. The patient's severity on admission was conditioned by marked hypotension. Further examination aimed at excluding occult gastrointestinal bleeding, adrenal insufficiency, decompensated heart failure. Bronze skin and icteric sclerae were positive. Blood tests revealed severe macrocytic hyperchromic anaemia, thrombocytopae-nia, hyperbilirubinaemia, hypoalbuminaemia, hypocoagulation, elevated transaminases, hyponatraemia, elevated creatinine (CKD DPI 63 mL/min), severe hyperferritinaemia. Faecal occult blood test and EGDS for bleeding were negative. Abdominal ultrasound exposed signs of liver cirrhosis and portal hypertension (ascites, splenomegaly). Echocardiographic evidence of dilated cardiomyopathy of all chambers, a reduced 24% ejection fraction at absent acute myocardial infarction. Primary haemochromatosis was suspected upon high ferritin, transferrin iron saturation and multiple organ dysfunction. Genotyping revealed the HFE 845G > A variant diagnostic of haemochromatosis type 1. Clinical diagnosis: Primary disease: haemochromatosis (homozygous variant HFE 845G > A (A/A)): liver cirrhosis, Child-Pugh class C. Portal hypertension: splenomegaly, ascites. Dilated cardiomyopathy. Diabetes mellitus. Complications: multiple organ dysfunction (SOFA 16). Liver failure: jaundice, hypoalbuminaemia, hypocoagulation. Cardiac rhythm and conduction disorder: paroxysmal atrial fibrillation. Acute cardiac failure with underlying CHF IIb, NYHA class 3. Acute renal failure (anuria) with underlying CKD stage 3 (CKD DPI 63 mL/min). Moderate macrocytic hyperchromic anaemia. Acute and chronic adrenal failure. Despite a cardiovascular and renal failure compensation therapy and albumin transfusion, the patient died. Autopsy revealed a marked organ infiltration with haemosiderin (heart, stomach, liver, pancreas, lungs, kidneys, adrenal glands).Conclusion. The case describes a classical clinical manifestation of haemochromatosis: bronze skin hyperpigmentation, liver cirrhosis, diabetes mellitus, cardiomyopathy, adrenal insufficiency. Terminal haemochromatosis, severe cardiac and renal failure decompensation precluded phlebotomy and chelation therapy. A lethal outcome was conditioned by multiple organ dysfunction with underlying massive haemosiderin deposition in most organs.

Keywords

• haemochromatosis
• inherited iron overload
• hfe
• dilated cardiomyopathy
• liver cirrhosis