Catastrophic antiphospholipid syndrome
Synonyms: CAPS · Catastrophic APS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Catastrophic antiphospholipid syndrome | CAPS · Catastrophic APS |
| fr | Syndrome catastrophique des antiphospholipides | CAPS |
| de | Katastrophales Antiphospholipidsyndrom | CAPS · Katastrophales APS |
| es | Síndrome antifosfolipídico catastrófico | SAF catastrófico · SAFC |
| it | Sindrome catastrofica da antifosfolipidi | |
| nl | Catastrofaal antifosfolipidensyndroom | CAPS · Catastrofaal APS |
| pt | Síndrome antifosfolípido catastrófico | |
| pl | Katastrofalny zespół antyfosfolipidowy | CAPS · Katasrofalny APS |
| cs | Katastrofický antifosfolipidový syndrom | CAPS · Catastrophic APS · Katastrofický APS |
| uk | Катастрофічний антифосфоліпідний синдром | CAPS · Катастрофічний APS |
| zh | 灾难相关抗磷脂综合征 | 灾难相关APS |
| tr | Katastrofik antifosfolipid sendromu | CAPS · Katastropik APS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D68.6 | NTBT | attributed | validated |
| ICD-11 | 4A45 | NTBT | attributed | validated |
| MONDO | 0018737 | E | validated | |
| UMLS | C3662487 | E | validated | |
| GARD | 9820 | 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 (2):
- ORPHA:248365Rare thrombotic disorder due to an acquired coagulation factors defect
rare hematological diseases - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_27375916[PMID] |
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
52 annotations · validated 2021-05-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003613 | Antiphospholipid antibody positivity | |
| Very frequent (99-80%) | ||
| HP:0001977 | Abnormal thrombosis | |
| Frequent (79-30%) | ||
| HP:0011112 | Abnormality of serum cytokine level | |
| HP:0032376 | Anti-beta 2 glycoprotein I antibody positivity | |
| HP:0020136 | Anticardiolipin IgG antibody positivity | |
| HP:0004420 | Arterial thrombosis | |
| HP:0002829 | Arthralgia | |
| HP:0004844 | Coombs-positive hemolytic anemia | |
| HP:0002625 | Deep venous thrombosis | |
| HP:0001937 | Microangiopathic hemolytic anemia | |
| HP:0002641 | Peripheral thrombosis | |
| HP:0005268 | Spontaneous abortion | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0031653 | Abnormal heart valve physiology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0100576 | Amaurosis fugax | |
| HP:0034101 | Anti-annexin-V antibody positivity | |
| HP:0034097 | Anti-phosphatidyl choline antibody positivity | |
| HP:0034084 | Anti-phosphatidyl ethanolamine antibody positivity | |
| HP:0034098 | Anti-phosphatidyl glycerol antibody positivity | |
| HP:0034099 | Anti-phosphatidyl inositol antibody positivity | |
| HP:0034100 | Anti-phosphatidyl serine antibody positivity | |
| HP:0020137 | Anticardiolipin IgM antibody positivity | |
| HP:0025324 | Arterial occlusion | |
| HP:0001369 | Arthritis | |
| HP:0000965 | Cutis marmorata | |
| HP:0025343 | Lupus anticoagulant | |
| HP:0002076 | Migraine | |
| HP:0001658 | Myocardial infarction | |
| HP:0100602 | Preeclampsia | |
| HP:0002204 | Pulmonary embolism | |
| HP:0001250 | Seizure | |
| HP:0200042 | Skin ulcer | |
| HP:0001297 | Stroke | |
| HP:0002638 | Superficial thrombophlebitis | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002326 | Transient ischemic attack | |
| Very rare (<4-1%) | ||
| HP:3000042 | Abnormal jugular vein morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0006846 | Acute encephalopathy | |
| HP:0001681 | Angina pectoris | |
| HP:0010885 | Avascular necrosis | |
| HP:0002072 | Chorea | |
| HP:0000726 | Dementia | |
| HP:0100601 | Eclampsia | |
| HP:0100758 | Gangrene | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0012819 | Myocarditis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0025326 | Retinal arterial occlusion | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28262233[PMID]_30205764[PMID]_28488841[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464343
- This record as JSON: /data/d/464343.json