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Endocrine Abstracts (2014) 34 P272 | DOI: 10.1530/endoabs.34.P272

1Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Birmingham, UK; 2Liver Research and NIHR Biomedical Research Unit in Liver Disease, University of Birmingham, Birmnigham, UK; 3Queen Elizabeth Hospital Birmingham, Birmingham, UK.


Alstrom syndrome is an autosomal recessive ciliopathy that is characterised by increased body mass index, type 2 diabetes, retinal dystrophy, sensorineural hearing loss, cardiac fibrosis, and chronic kidney disease. Non-alcoholic fatty liver disease (NAFLD) in Alstrom patients ranges from simple steatosis, steatohepatitis and ultimately to fibrosis and cirrhosis. Nafld fibrosis score (http://nalfdscore.com/), enhanced liver fibrosis (ELF)-panel blood tests and Fibroscans are non-invasive methods to identify patients with NAFLD fibrosis without liver biopsy.

22 patients underwent a hepatological assessment at the multidisciplinary Alstrom clinic at University Hospitals Birmingham (68% males and age 29.6±2.6) including history, examination, biochemistry, liver ultrasound, ELF-panel (elevated liver fibrosis blood tests) and a Fibroscan. Patients were typically obese (BMI 30.3±1.3) with a high incidence of type 2 diabetes (68%) and dyslipidaemia (41%). 17/22 had a fatty liver on ultrasound. All patients had a valid Fibroscan. 10/22 patients had a liver stiffness measurement suggestive of significant fibrosis (≥8 kPa) (BMI 32±2.2 and age 30.4±3.9) and were more likely to be diabetic (P=0.03). 8/10 had an ELF-panel all of which were confirmatory of moderate-significant fibrosis. 9/10 had an NFS score calculated (six low, two indeterminate, and one high). Of the remaining 12 patients with a Fibroscan < 8 kPa ten had an ELF-panel (three severe, six moderate, and one non/mild). one patient with a positive Fibroscan and high ELF proceeded to biopsy and had significant fibrosis.

Imaging shows that NAFLD is prevalent in Alstrom syndrome and there is likely to be an under recognised burden of fibrosis which can be diagnosed using non invasive blood tests and Fibroscan. The NAFLD fibrosis score which is the most readily available assessment underestimates fibrosis in this cohort which may be a feature of the disease whereby fibrosis occurs at a younger age and at a lower BMI.

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