ESPE Abstracts

Up to 20% of children have an underlying potential secondary cause for dyslipidemia. Frequently, the treatment of the underlying cause can lead to normalization of lipid profile.

Case report: A 7.5-year-old girl patient presented to us with complaints of short stature, constipation since the age of 3, memory impairment, intolerance to cold, excessive drinking and urination in the last month, and weight loss. On physical examination, her weight was 15 kg (-3.2 SDS), height was 97.8 cm (-5.1 SDS), there was bilateral palpebral edema, thin hair, dry skin, and abdominal swelling. There was a milky appearance in blood sample taken for biochemistry studies. In laboratory, glucose 411 mg/dL, triglyceride 3000 mg/dL (0-200), total cholesterol >1000 mg/dL(0-200), low-density lipoprotein (LDL) cholesterol >800 mg/dL(50-159), high-density lipoprotein (HDL) cholesterol >190 mg/dL (35-65), aspartat aminotransferase (AST) 275 U/L (0-37), alanine aminotransferase (ALT) 180 U/L (0-41) levels were found to be elevated. Complete blood count, coagulation tests BUN, creatinine, total protein, albumin and uric acid levels were normal. In addition, her HbA1c 13 %, c peptid 0,44 ng/ml, urine ketones were positive, with no evidence of metabolic acidosis. She had ketonuria and laboratory findings consistent with diabetes. Intravenous fluid and subcutaneous insulin treatment were initiated Laboratory assessment revealed TSH > 100 μUI/mL (0.550-4.780), FT4< 0.04 ng/dL (0.70-1.58), free FT3< 0.3 pg/mL (1.71-3.71), positive thyroglobulin and peroxidase antibody. Thyroid ultrasonography showed a normal size gland, suggesting thyroiditis. Upon detection of pericardial fluid in the patient's echocardiogram, low-dose L-thyroxine therapy was initiated, and the dose was gradually increased. After four weeks of insulin and levothyroxine treatment, the lipid profile (TC 184 mg/dL, HDL-C 31 mg/dL, LDL-C 115 mg/dL, TG 96,6 mg/dL) and liver function tests (ALT 16,5 U/L, AST 37 U/L)were normalized. No treatment was administered for hyperlipidemia during this period. Additionally, the patient was diagnosed with celiac disease based on tissue transglutaminase value >200 U/ml and pathology. A gluten-free diet was recommended. The case was placed under follow-up with a diagnosis of autoimmune polyglandular syndrome type 3.

Conclusion: This case emphasized severe dyslipidemia secondary to autoimmune hypothyroidism and diabetes mellitus. If the diagnosis of hypothyroidism had been made in a timely manner and treatment initiated, the current clinical and laboratory findings could have been prevented. In every child with hyperlipidemia, secondary causes should be excluded as a priority.