Familial chylomicronemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial chylomicronemia syndrome | |
| fr | Syndrome de chylomicronémie familiale | |
| de | Chylomikronämie-Syndrom, familiäres | |
| es | Síndrome de quilomicronemia familiar | |
| it | Chilomicronemia familiare | |
| nl | Familiale chylomicronemie-syndroom | |
| pt | Hiperquilomicronemia familiar | |
| pl | Rodzinny zespół chylomikronemii | |
| cs | Familiární chylomikronémie | |
| uk | Синдром сімейної хіломікронемії | |
| zh | 家族性乳糜微粒血症综合征 | |
| tr | ailesel şilomikronemi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118830 | BTNT | validated | |
| OMIM | 144650 | BTNT | validated | |
| OMIM | 145750 | BTNT | validated | |
| OMIM | 207750 | BTNT | validated | |
| OMIM | 238600 | BTNT | validated | |
| OMIM | 615947 | BTNT | validated | |
| ICD-10 | E78.3 | NTBT | attributed | validated |
| ICD-11 | 5C80.1 | NTBT | attributed | validated |
| MONDO | 0018637 | E | validated | |
| UMLS | C5442313 | E | validated | |
| GARD | 6414 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:181422Rare hyperlipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:411Hyperlipoproteinemia type 1 moved to · inactive
- ORPHA:70470OBSOLETE: Hyperlipoproteinemia type 5 referred to · inactive
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| APOC2 | ORPHA:309020Familial apolipoprotein C-II deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:609 | ENSG00000234906 | 608083 | 19q13.32 | apolipoprotein C2 | 24589565[PMID] |
| LPL | ORPHA:309015Familial lipoprotein lipase deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6677 | ENSG00000175445 | 609708 | 8p21.3 | lipoprotein lipase | 24589565[PMID] |
| APOA5 | ORPHA:530849Familial apolipoprotein A5 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:17288 | ENSG00000110243 | 606368 | 11q23.3 | apolipoprotein A5 | 25732519[PMID]_29980054[PMID] |
| GPIHBP1 | ORPHA:535458Familial GPIHBP1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:24945 | ENSG00000277494 | 612757 | 8q24.3 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | 25732519[PMID]_29980054[PMID] |
| LMF1 | ORPHA:535453Familial lipase maturation factor 1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:14154 | ENSG00000103227 | 611761 | 16p13.3 | lipase maturation factor 1 | 25732519[PMID]_29980054[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | United States | Value and class | Validated | 15758547[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.97 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2014[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2017-02-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012238 | Hyperchylomicronemia | |
| HP:0003077 | Hyperlipidemia | |
| HP:0002155 | Hypertriglyceridemia | |
| Very frequent (99-80%) | ||
| HP:0001735 | Acute pancreatitis | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000660 | Lipemia retinalis | |
| HP:0100027 | Recurrent pancreatitis | |
| Frequent (79-30%) | ||
| HP:0001013 | Eruptive xanthomas | |
| HP:0001397 | Hepatic steatosis | |
| Occasional (29-5%) | ||
| HP:0004325 | Decreased body weight | |
| HP:0001508 | Failure to thrive | |
| HP:0002017 | Nausea and vomiting | |
| Very rare (<4-1%) | ||
| HP:0100851 | Abnormal emotion/affect behavior | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000952 | Jaundice | |
| HP:0002354 | Memory impairment | |
| HP:0009789 | Perianal abscess | |
| HP:0002204 | Pulmonary embolism | |
| Excluded (0%) | ||
| HP:0004416 | Precocious atherosclerosis | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 27998715[PMID]_2648155[PMID]_16174715[PMID]_3887163[PMID]_20301485[PMID]_26892137[PMID]_12387965[PMID]_10342813[PMID]_9091793[PMID]_26825936[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444490
- This record as JSON: /data/d/444490.json