AB0073 A case of fulminant lupus in a young man with hereditary haemochromatosis
Authors: CF Matthews, P Gardiner
Journal: Annals of the Rheumatic Diseases (2001)

<h3>Background</h3> Mild derangements of liver function tests in systemic lupus erythematosis (SLE) are not uncommon, reflecting either disease activity or treatment. Rare causes of hepatic dysfunction include arteritis and lupoid hepatitis.<sup>1</sup> We report on a patient with SLE and coexisting haemochromatosis. <h3>Objectives</h3> <h3>Methods</h3> CASE REPORT: A 26 year old man presented with acute onset of jaundice and skin rash. He had a history of intermittent rash and arthralgia with serology positive for ribonuclear protein antibodies characteristic of mixed connective tissue disease. On examination he was icteric with a pyrexia. There was a maculopapular rash typical of subacute cutaneous lupus over his anterior chest wall. <h3>Results</h3> Investigations showed a normocytic, normochromic anaemia, a thrombocytopaenia and a lymphopaenia. His prothrombin time and partial thromoboplastin time were prolonged. Liver function tests showed an elevated total bilirubin and raised aspartate transferase and alanine transferase. Autoimmune serology showed positive antiRNP/Sm. Complement levels were low. Anticardiolipin antibodies were negative. Viral titres were negative. Serum ferritin level was elevated. Blood cultures grew b haemolytic streptococcus. He was treated with high dose corticosteroids. He had intravenous antibiotics. The coagulopathy was treated with vitamin K and fresh frozen plasma. The thrombocytopaenia was treated with immunoglobulins. In spite of further management, unfortunately he died. A postmortem showed acute renal tubular necrosis and crescentic glomerulonephritis. Liver histology showed periportal deposition of iron predominately in zone three. This, together with the presence of iron deposition in the exocrine pancreas gland confirmed the diagnosis of hereditary haemochromatosis. <h3>Conclusion</h3> At its simplest this case represents two disease processes occurring by chance in the same patient. However both conditions are uncommon. A second possibility is that there is a common genetic link. The patient's father had a history of idiopathic thrombocytopaenia. Some cases of evolution from ITP to SLE have been reported. It seems possible therefore that there may be a genetic component to his predisposition to lupus. Linkage studies of SLE using microsatellites have revealed a wide range of genome susceptibility loci. Although haemochromatosis is the most commonly inherited single gene disorder, there was no known family history here. A further possibility was that the two conditions had an additive effect. A high ferritin can reflect lupus activity. It also acts a source of iron causing production of hydroxyl radicals from oxygen and extensive tissue damage. In conclusion there are several possible theories causing multiorgan failure in this case. <h3>Reference</h3> Matsumoto T, Yoshimine MD, Shimouchi K, <i>et al</i>. The liver in systemic lupus erythematosis: Pathologic analysis of 52 cases and review of Japanese autopsy registry data. Hum Pathol. 1992;23(10):1151–8