Endocrine Abstracts

We present a challenging case of a 51 years old men, diagnosed with diabetes as he presented to emergency department with osmotic symptoms and hyperglycaemia. He was started on insulin and referred to diabetes clinic.

On review, glycaemic control was sub-optimal (HbA1c 94 mmol/mol) and his insulin was changed from biphasic to basal-bolus regimen. His BMI was 21 kg/m² and no family history of diabetes was reported. The Anti GAD antibody was negative. He had some circulating insulin and C-peptide level, though less than expected for given blood glucose. He was noted to have a modest sustained rise in ALT.

A detailed exploration of history revealed chronic polyarthritis of unknown aetiology, loss of libido and erectile dysfunction. He had not fathered children. Further workup showed secondary hypogonadism with otherwise normal anterior pituitary hormones, splenomegaly, mildly coarse Liver and osteoporosis at lumbar spine. He had normal echocardiogram and MRI of pituitary. Serum Ferritin was raised at 3132 ug/l (Ref range 30–284 ug/l). Serum iron and iron saturation was 51.4 μmol/l (Ref 9–32 μmol/l) and 110% (Ref 20–50%) respectively.

A diagnosis of Hemochromatosis Type 1 was confirmed by presence of HFE gene mutation – C282Y Homozygous mutation, causing secondary diabetes, arthritis and hypogonadism.

Patient was started on venesection fortnightly and testosterone replacement. Following treatment, significant improvement in general well-being and sexual function was reported. His diabetes is well controlled.

Hereditary Haemochromatosis is autosomal recessive condition, with vast majority homozygous for the HFE C282Y gene mutation. In the general population, 1 in 200 people have this genotype, but only a fraction proceeds to develop clinically relevant disease. The serious complications of haemochromatosis include Diabetes, liver cirrhosis, arthritis, cardiomyopathy and hypogonadism. An early treatment, normally by venesection, preserves normal life expectancy.

Haemochromatosis should be considered in differential diagnosis of secondary diabetes in patients with relevant symptoms.