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S. Adam, S. Grecian, A.A. Syed, Hereditary haemochromatosis presenting with diabetic ketoacidosis, QJM: An International Journal of Medicine, Volume 109, Issue 11, November 2016, Pages 747–748, https://doi.org/10.1093/qjmed/hcw158
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Case presentation
A previously healthy 53-year-old Caucasian man presented to the emergency department with vomiting, lethargy and blurring of vision for five days and polydipsia, polyuria and weight loss of 6 kg over a month. He was dehydrated and deeply tanned (Figure 1A). On direct enquiry he recalled that his father and paternal uncle were also dark and died in their fifties from heart disease. He had no history of blood transfusions, alcohol use or smoking. He had hepatomegaly without stigmata of chronic liver disease, heart failure or endocrine disease. Initial investigations showed an arterial pH of 7.1 (normal, 7.35–7.45) and bicarbonate 11.2 (21.0–28.0) mmol/l, ketonuria (4+), plasma glucose 20.7 (4.0–11.0) mmol/l, and alanine transferase 69 (0–50) U/l; bilirubin, alkaline phosphatase, prothrombin time, renal function, C-reactive protein, full blood counts, chest X-ray and echocardiogram were normal.
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Following treatment for diabetic ketoacidosis (DKA), he was established on subcutaneous insulin injections. His insulin requirements were typical of pancreatic beta cell failure (albeit of non-autoimmune aetiology as islet cell and glutamic acid decarboxylase antibodies subsequently came back negative). Based on skin bronzing, hepatomegaly, diabetes and suggestive family history, hereditary haemochromatosis (HH) was suspected. Iron studies confirmed severe iron overload with a serum ferritin of 11346 (40–400) μg/l, iron 39.3 (11–28) μmol/l, transferrin saturation 92 (15–45)% and total iron binding capacity 42.7 (45–70) μmol/l. Genotyping confirmed a homozygous C282Y mutation of the HFE gene. Ultrasound confirmed diffuse hepatomegaly and percutaneous liver biopsy showed micronodular cirrhosis with severe haemosiderosis. Pituitary function tests showed hypogonadotrophic hypogonadism and secondary hypothyroidism; magnetic resonance imaging confirmed pituitary haemosiderosis. With regular phlebotomy hyperferritinaemia reduced and skin bronzing lightened (Figure 1B). He is receiving insulin, levothyroxine and testosterone therapies. Long-term management has included monitoring of diabetic complications, alpha-fetoprotein levels and hepatic ultrasound scans.
