Endocrine Abstracts

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 μ/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 primary haemochromatosis (codon 63-HH, codon 282-YY).

Baseline tests revealed: FT₄ 12.5 pmol/l, TSH of 0.6 mU/l; 0900 h cortisol 454 nmol/l; prolactin 101 mIU/l; testosterone 0.2 nmol/l, LH <0.1 IU/l, FSH <0.2 IU/l; IGF-1 7.1 nmol/l and GH 1.26 μ/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. The latest ferritin is now back to normal with regular venesection and IGF1 is also normal. A recent ECHO has demonstrated return of good systolic function.

Primary 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.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.