Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively. The patient was not responsive to statins, fibrates, or tetrahydrolipstatin. A novel homozygous frameshift mutation on exon 3 of the APOC2 gene was detected, c.133_134delTC. Subsequent Sanger sequencing confirmed that three first-degree relatives were carriers of the same mutation. To the best of our knowledge, we are reporting the first Colombian patient with FCS due to an APOC2 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis.
Background. Neurological complications occur between 50 and 70% of patients with heart transplantation, including cerebrovascular events, infections, seizures, encephalopathy, and neurotoxicity due to pharmacological immunosuppression. Mortality associated with cerebrovascular complications is 7.5% in the first 30 days and up to 5.3% after the first month and up to the first year after transplantation. Case Reports. Three heart-transplanted patients (2 men and 1 woman) treated with tacrolimus were identified. They presented with posterior reversible encephalopathy syndrome on days 5, 6, and 58 posttransplantation, respectively. In these reported cases, no sequelae were observed at 6 months follow-up. Conclusions. Posterior reversible encephalopathy syndrome as a neurological complication in patients with HT occurred early after the procedure. Early diagnosis and treatment might reduce the risk of serious complications and mortality.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.