HELLP syndrome
Synonyms: Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HELLP syndrome | Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome |
| fr | Syndrome HELLP | Hémolyse, enzymes hépatiques élevées, thrombocytopénie pendant la grossesse |
| de | HELLP-Syndrom | Hämolysis mit erhöhten Leberwerten und niedrigen Thrombozytenzahlen in der Schwangerschaft · Hämolysis-erhöhte Leberwerte-niedrige Thrombozytenzahlen-Syndrom |
| es | Síndrome HELLP | Hemólisis, enzimas hepáticas elevadas, disminución de las plaquetas en el embarazo · Síndrome de hemólisis-enzimas hepáticas elevadas-disminución de plaquetas |
| it | Sindrome HELLP | Emolisi, aumento degli enzimi epatici, diminuzione delle piastrine durante la gravidanza · Sindrome emolisi-aumento degli enzimi epatici-diminuzione delle piastrine |
| nl | HELLP-syndroom | Hemolyse, verhoogde leverenzymen, laag gehalte aan bloedplaatjes gedurende zwangerschap · Hemolyse - verhoogde leverenzymen - laag gehalte aan bloedplaatjes-syndroom |
| pt | Síndrome HELLP | |
| pl | Zespół HELLP | Hemoliza, podniesiony poziom enzymów wątrobowych, niski poziom płytek krwi w ciąży · Zespół hemoliza-podniesiony poziom enzymów wątrobowych-niski poziom płytek krwi |
| cs | HELLP syndrom | Hemolysis-elevated liver enzymes-low platelets syndrome · Hemolysis, elevated liver enzymes, low platelets in pregnancy · Syndrom zahrnující hemolýzu, zvýšené jaterní enzymy a nízké krevní destičky · Hemolýza, zvýšené jaterní enzymy, nízká hladina krevních destiček v těhotenství |
| uk | HELLP-синдром | Гемоліз, підвищення рівня печінкових ферментів, низький рівень тромбоцитів під час вагітності · Синдром гемолізу - підвищення рівня печінкових ферментів - низького рівня тромбоцитів |
| zh | HELLP综合征 | 妊娠期溶血、肝酶升高、血小板减少 |
| tr | HELLP sendromu | Hemoliz-yükselmiş karaciğer enzimleri-düşük trombosit sendromu · Hemoliz, yüksek karaciğer enzimleri, gebelikte düşük trombosit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | O14.2 | E | specific | validated |
| ICD-11 | JA24.2 | E | specific | validated |
| MONDO | 0008585 | E | validated | |
| MeSH | D017359 | E | validated | |
| UMLS | C0162739 | E | validated | |
| GARD | 8528 | E | validated | |
| MedDRA | 10049058 | 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 (3):
- ORPHA:163637Rare disorder related with pregnancy, childbirth and puerperium
rare gynecological and obstetric diseases - ORPHA:248347Rare hemorrhagic disorder due to an acquired platelet anomaly
rare hematological diseases - ORPHA:57146Rare hepatic disease
rare hepatic diseases
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD46 | Candidate gene tested in | Not yet assessed | HGNC:6953 | ENSG00000117335 | 120920 | 1q32.2 | CD46 molecule | 17914026[PMID] |
| CFH | Candidate gene tested in | Not yet assessed | HGNC:4883 | ENSG00000000971 | 134370 | 1q31.3 | complement factor H | 18658028[PMID]_22594569[PMID] |
| CFI | Candidate gene tested in | Not yet assessed | HGNC:5394 | ENSG00000205403 | 217030 | 4q25 | complement factor I | 18658028[PMID]_22594569[PMID] |
| HELLPAR | Major susceptibility factor in | Assessed | HGNC:43984 | ENSG00000281344 | 614985 | 12q23.2 | HELLP associated long non-coding RNA | 23093777[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
32 annotations · validated 2019-04-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001873 | Thrombocytopenia | |
| Very frequent (99-80%) | ||
| HP:0001878 | Hemolytic anemia | |
| Frequent (79-30%) | ||
| HP:0012378 | Fatigue | |
| HP:0007430 | Generalized edema | |
| HP:0002315 | Headache | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0004324 | Increased body weight | |
| HP:0008071 | Maternal hypertension | |
| HP:0100602 | Preeclampsia | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0000093 | Proteinuria | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0003418 | Back pain | |
| HP:0025547 | Decreased mean corpuscular hemoglobin concentration | |
| HP:0005521 | Disseminated intravascular coagulation | |
| HP:0100601 | Eclampsia | |
| HP:0410019 | Epigastric pain | |
| HP:0003641 | Hemoglobinuria | |
| HP:0002615 | Hypotension | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001937 | Microangiopathic hemolytic anemia | |
| HP:0002018 | Nausea | |
| HP:0011419 | Placental abruption | |
| HP:0002202 | Pleural effusion | |
| HP:0001058 | Poor wound healing | |
| HP:0100598 | Pulmonary edema | |
| HP:0030834 | Shoulder pain | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0011029 | Internal hemorrhage | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30801473[PMID]_27181089[PMID]_10925900[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/244242
- This record as JSON: /data/d/244242.json