Endocrine Abstracts

Background: Alstrom syndrome is a rare autosomal recessive genetic disorder characterised by vision loss, hearing loss, childhood obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Hyperinsulinemia develops early, and pancreatic islets show beta-cell proliferation, thus suggesting that both insulin resistance and increased insulin secretion might contribute to glucose intolerance. Increased triglyceride levels, steatosis in the liver and pancreas can also amplify the insulin resistance.

Case presentation: A 20-year-old male patient was diagnosed with congenital amaurosis at the age of 6, diabetes mellitus and hypothyroidism at the age of 8, and hearing loss at the age of 9. Then mutations in ALMS1 detected and Alstrom syndrome was diagnosed. No pathology was detected in bone marrow biopsy for pancytopenia in 2015, and follow-up planned. Chronic liver disease and esophageal varices were detected in 2017. He was admitted to our Endocrinology outpatient clinic with high blood sugar. The serum level of FPG, HbA1c, insulin (fasting), and c-peptide were 148 mg/dl, 10.5%, 63.1 mU/l (3–25) and 5.31 mg/l (0.81–3.85), respectively. Anti-GAD, anti-islet antibody and anti-insulin antibody were negative. He was hospitalised for blood glucose regulation. His height was 155 cm and body weight was 55 kg. On admission, he received 15 units/day insulin glargine and 25 units/day insulin aspart. The total daily insulin requirement increased to 216 units and blood glucose was in the range of 150–300 mg/dl. Due to cirrhosis, the recommendation of pediatric metabolic disease doctors was taken, and then metformin and pioglitazone treatment were started while sodium benzoate treatment was continuing. Liver decompensation did not develop at follow-up and insulin requirement gradually decreased to 160 units/day and blood glucose decreased to 90–190 mg/dl.

Conclusion: In diabetes mellitus types with insulin resistance such as Alstrom syndrome, drugs that increase insulin sensitivity such as metformin and glitazone come into prominence. Due to cirrhosis of our case, metformin and pioglitazone treatment was started cautiously. There was a significant decrease in insulin requirement and improvement in the brittle blood glucose profile without any side effects.