ABSTRACT
El síndrome de quilomicronemia familiar (SQF) es unaenfermedad autosómica recesiva rara, con una prevalencia1:200 000 - 1:1 000 000, y se caracteriza por quilomicronemiaen ayunas y niveles muy elevados de triglicéridos (> 880 mg/dl). LPL es el gen más frecuentemente afectado, luego APOC2,GPIHBP1, APOA5 y LMF1; todos ellos comprometen la función de la lipoproteinlipasa endotelial. El SQF suele presentarseen la infancia con dolor abdominal recurrente, xantomaseruptivos, retraso del crecimiento, pancreatitis y, en ocasiones,asintomático. El tratamiento convencional es la restriccióndietética de grasas. Se muestra el resultado clínico de 20 pacientes pediátricoscon SQF reclutados de 4 hospitales en Argentina.
Familial chylomicronemia syndrome (FCS) is a rare autosomalrecessive disease, prevalence 1:200,000 - 1:1,000,000, andis characterized by fasting chylomicrons and very hightriglycerides > 880 mg/dl. LPL is the most frequentlyaffected gene, then APOC2, GPIHBP1, APOA5, LMF1, all ofthem compromising the function of lipoproteinlipase. FCScommonly presents in childhood with recurrent abdominalpain, eruptive xanthomas, failure to thrive, pancreatitis, andsometimes asymptomatic. The conventional treatment isdietetic fat restriction. The clinical outcome of 20 pediatric patients with FCS recruited from 4 hospitals in Argentina is reported.
Subject(s)
Humans , Infant , Child, Preschool , Child , Pancreatitis/diagnosis , Pancreatitis/etiology , Pancreatitis/therapy , Hypertriglyceridemia/genetics , Hyperlipoproteinemia Type I/diagnosis , Hyperlipoproteinemia Type I/genetics , Hyperlipoproteinemia Type I/therapyABSTRACT
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease, prevalence 1:200,000 - 1:1,000,000, and is characterized by fasting chylomicrons and very high triglycerides > 880 mg/dl. LPL is the most frequently affected gene, then APOC2, GPIHBP1, APOA5, LMF1, all of them compromising the function of lipoproteinlipase. FCS commonly presents in childhood with recurrent abdominal pain, eruptive xanthomas, failure to thrive, pancreatitis, and sometimes asymptomatic. The conventional treatment is dietetic fat restriction. The clinical outcome of 20 pediatric patients with FCS recruited from 4 hospitals in Argentina is reported.
El síndrome de quilomicronemia familiar (SQF) es una enfermedad autosómica recesiva rara, con una prevalencia 1:200 000 - 1:1 000 000, y se caracteriza por quilomicronemia en ayunas y niveles muy elevados de triglicéridos (> 880 mg/ dl). LPL es el gen más frecuentemente afectado, luego APOC2, GPIHBP1, APOA5 y LMF1; todos ellos comprometen la función de la lipoproteinlipasa endotelial. El SQF suele presentarse en la infancia con dolor abdominal recurrente, xantomas eruptivos, retraso del crecimiento, pancreatitis y, en ocasiones, asintomático. El tratamiento convencional es la restricción dietética de grasas. Se muestra el resultado clínico de 20 pacientes pediátricos con SQF reclutados de 4 hospitales en Argentina.
Subject(s)
Hyperlipoproteinemia Type I , Hypertriglyceridemia , Pancreatitis , Argentina , Child , Humans , Hyperlipoproteinemia Type I/diagnosis , Hyperlipoproteinemia Type I/genetics , Hyperlipoproteinemia Type I/therapy , Hypertriglyceridemia/genetics , Pancreatitis/diagnosis , Pancreatitis/etiology , Pancreatitis/therapyABSTRACT
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.