SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias

121 - An initial analysis of the United Kingdom registry of Familial Chylomicronaemia Syndrome patients (ID 575)

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Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
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Abstract

Background and Aims

Aim: We established a national register for familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS) in UK. Our aims are to study the natural history of FCS, genotype and phenotype characterisation of patients and to compare disease burden with multifactorial chylomicronaemia (MCS) patients.

Methods

Methods: We obtained informed consent and retrospectively reviewed medical records of 38 patients with either genetically confirmed FCS patients and 40 age matched patients with MCS across 5 sites in the UK. We collected demographic, clinical and molecular test data.

Results

Results: FCS-patients were more likely to suffer acute pancreatitis compared to MCS [29(76.3%) vs 11(27.5%),P<0.001]. Further they suffered more recurrent episodes compared to MCS[19(50%) vs 5(12.5%)p< 0.01]. Prevalence of atherosclerotic-cardiovascular diseases and diabetes although lower in the FCS group did not reach statistical significance. Hospital admissions for acute pancreatitis were significantly higher in FCS patients compared to MCS [25(65%) vs 8(20%),p<0.001]. Peak triglyceride levels were higher in FCS patients compared to MCS patients [47.4(19.8) vs 35.7(22.4),p<0.05]. Lowest triglyceride levels recorded were also significantly higher in patients with FCS compared to MCS patients [10.2(7.37) vs 5.2(6.3),p<0.001]. FCS patients with lipoprotein lipase mutations were compared against all other mutations and no significant differences in natural history, comorbidities or severity of hypertriglyceridaemia observed.table 1.pngtable 2.png

Conclusions

Conclusions: FCS patients have significantly higher prevailing triglyceride levels compared to MCS. They are at greater risk of acute pancreatitis and becoming hospitalised for abdominal pain and acute pancreatitis. Other mutations causing FCS appears to have the same natural history compared to patients with LPL mutations.

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Previous ePoster
120 - Familial Chylomicronaemia Syndrome: National Genetics Testing Results from the United Kingdom (ID 544)

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