loading...| Preferred Name |
Familial chylomicronemia syndrome |
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| Synonyms |
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| Definitions |
A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_444490 |
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| definition |
A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 |
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| has_age_of_onset |
Adolescent Adult Childhood Infancy |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:E78.3 OMIM:207750 UMLS:C5442313 OMIM:118830 OMIM:238600 OMIM:615947 |
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| label |
Familial chylomicronemia syndrome |
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| notation |
ORPHA:444490 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_444490 |
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| prefLabel |
Familial chylomicronemia syndrome |
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| present_in |
United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.97 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView | ||
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