A 53-year-old gentleman was seen following a recent diagnosis of type 2 diabetes in May 2009. He had suffered a subarachnoid haemorrhage in 1993 and remained under the local tertiary centre after developing secondary hypogonadism treated with testosterone replacement. The cause had never been established.
The patient had previously been diagnosed with seronegative HLA B27 arthropathy and in December 2008 was admitted with acute cardiac failure and atrial fibrillation. An echocardiogram demonstrated a moderately dilated right and left heart, global left ventricular hypokinesia, an ejection fraction of 20% consistent with dilated cardiomyopathy. He responded well to medical therapy.
He had mildly abnormal liver function tests in the past but his AST level was twice the upper limit of normal in May 2009. Subsequent iron studies revealed a transferrin saturation of 90% and ferritin of 8989 μg/l. Testosterone replacement was therefore discontinued.
Hepatitis screen and liver autoantibodies proved negative. AFP level was <2. Abdominal ultrasound confirmed 23 cm hepatomegaly but no splenomegaly. The patient was confirmed to have hereditary haemochromatosis (codon 63-HH, codon 282-YY).
Baseline tests revealed: FT4 12.5 pmol/l, TSH of 0.6 mU/l; 9am cortisol 454 nmol/l; prolactin 101 mIU/l; testosterone 0.2 nmol/l, LH <0.1 IU/l, FSH <0.2 IU/l; IGF1 7.1 nmol/l and GH 1.26 μg/l.
A TRH test was normal but a glucagon test confirmed GH deficiency with normal cortisol response.
An MRI did not demonstrate pituitary enhancement but cardiac MRI has shown a grossly dilated LV with globally impaired function and severe myocardial iron loading. Ferritin levels have fallen to 3203 μg/l with regular venesection and he remains under annual surveillance by the gastroenterologists.
Hereditary haemochromatosis is an autosomal recessive disorder characterised by excess iron deposition especially in the liver, heart, pancreas, and pituitary. This case is an excellent example of why this diagnosis should be excluded in patients with unexplained cardiac failure or hypogonadism.