👤 Faiqa Imtiaz

Familial chylomicronemia syndrome (FCS) is a severe type of hypertriglyceridemia (HTG). Despite its rarity, we have encountered more than 100 patients with FCS at our center. Therefore, we aimed to provide a useful resource for clinicians who may encounter such patients and help the scientific community accumulate knowledge to manage this disease. This retrospective study described the clinical characteristics and management of FCS patients at (King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia). In total, 29 pediatric patients were included, with a median age of 2.2 months [IQR: 1.3, 12]. Males predominated (62.0%). Key symptoms included a milky blood sample (72.4%), a family history of HTG (65.5%), hepatosplenomegaly (44.8%), acute pancreatitis (31.0%), and eruptive xanthoma (13.8%). Gemfibrozil (22 patients) reduced TG from 47.6 ± 55.7 to 9.4 ± 7.5 mmol/L (mean reduction 38.2 ± 54.5 mmol/L, P<0.001). Fenofibrate (19 patients) lowered TG from 45.4 ± 56.4 to 18.4 ± 13.1 mmol/L (mean difference 27.1 ± 52.0 mmol/L, P=0.001). While the Niacin-aspirin (4 patients) and diet alone (4 patients) had no significant effect (P=1.000) and (P=0.125), respectively. The rarity of FCS makes it more challenging for scientists and clinicians to achieve advancements in its management. We observed that anti-TG medications, especially fibrate derivatives, can be used safely in pediatric patients. They displayed excellent ability to control TG levels in combination with diet restrictions, and treatment compliance was good. Among fibrate derivatives, gemfibrozil controlled TG levels better than fenofibrate, and neither drug had significant side effects. Show less

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We report two siblings with classical clinical and radiological features of DMC and asymptomatic atlanto-axial dislocation. A novel homozygous splice-site mutation (IVS15+3G>T) was detected. Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed that this mutation affects normal splicing. To the best of our knowledge, this is the first report of DMC from Saudi Arabia. The splice mutation noted in our patients was compared to the previously reported cases and supports the hypothesis that loss of DYM function is the likely mechanism of disease pathogenesis. In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling. Show less