Background: Bardet-Biedl syndrome (BBS) is a rare autosomal ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal anomalies, mental retardation and hypogonadism as well as minor features, which include diabetes mellitus, cardiac dysfunction and behavioural abnormalities. Hypertriglyceridaemia in BBS patients has not been reported to date.
Objective and hypotheses: Presentation of the diagnosis and treatment of hypertriglicerydaemia in a boy with BBS.
Method: Analysis of the clinical course on the basis of medical records.
Results: Male patient, at the age of 16 month with post-axial polydactyly, obesity, recurrent upper airway infections, isolated IgA deficit and severe gastroesophageal reflux disease has been diagnosed with BBS type 2. Further examinations revealed left ear hearing insufficiency, and severe mental, motor and speech retardation, with accompanying autism. At the moment of BBS diagnosis (16 months) laboratory testing revealed isolated hypertriglyceridemia (triglycerides TGL, 3.01 mmol/l, N: 0.311.41 mmol/l), with with normal total cholesterol (5.4 mmol/l, N: 2.755.95 mmol/l), LDL cholesterol (3.11 mmol/l, N: 1.653.41 mmol/l), and HDL cholesterol (0.94 mmol/l, N: 0.602.05 mmol/l). Treatment with low fat diet was unsuccessful, subsequent laboratory testing at the age of 10 years and 11 years and 11 months revealed permanent elevated level of TGL (2.98 and 8.41 mmol/l respectively, N: 0.271.86 mmol/l), with normal total, LDL and HDL cholesterol levels. There were no clinical, nor laboratory features of insulin resistance: normal fasting serum glucose level 4.4 mmol/l, fasting serum insulin level 2.13 μIU/ml, HOMA index 0.4. Family history was negative. Therefore familial form and secondary hypertriglyceridemia were excluded. Treatment with fenobirate has been started. Control laboratory tests after 2 months revealed significant decrease of TGL (1.82 mmol/l). No adverse effects of fenofibrate have been noticed.
Conclusion: This case study describes the first case of BBS with hypertriglyceridemia which is a novel sign to the syndrome that cannot be explained by accompanying diseases, diagnosed up to date. Treatment with fenofibrate in BBS patients may be effective and safe.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology