TAFRO syndrome
Synonyms: Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TAFRO syndrome | Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome |
| fr | Syndrome de TAFRO | Syndrome de thrombocytopenie-anasarque-fièvre-insuffisance rénale-organomégalie |
| de | TAFRO-Syndrom | Thrombozytopenie-Anasarka-Fieber-Nebenniereninsuffizienz-Organomegalie-Syndrom |
| es | Síndrome TAFRO | Síndrome de trombocitopenia-anasarca-fiebre-insuficiencia renal-organomegalia |
| it | Sindrome TAFRO | |
| nl | TAFRO-syndroom | Trombocytopenie - anasarca - koorts - nierinsufficiëntie - organomegalie-syndroom |
| pt | Síndrome TAFRO | Síndrome de trombocitopenia-anasarca-febre-insuficiência renal-organomegalia |
| pl | Zespół TAFRO | Zespół małopłytkowości, uogólnionego obrzęku skóry i tkanki podskórnej, gorączki, niewydolności nerek i organomegalii |
| cs | TARFO syndrom | Syndrom zahrnující trombocytopenii, anasarku, horečku, renální insuficienci a organomegalii |
| uk | Синдром TAFRO | Синдром тромбоцитопенії - анасарки - гарячки - ниркової недостатності - органомегалії |
| zh | TAFRO综合征 | 血小板减少症-全身水肿-发热-肾功能不全-器官肿大综合征 |
| tr | TAFRO sendromu | Trombositopeni-anasarca-ateş-böbrek yetmezliği-organomegali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A4Y | NTBT | index | validated |
| MONDO | 0018702 | E | validated | |
| MONDO | 18702 | E | validated | |
| UMLS | C4552543 | 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:248347Rare hemorrhagic disorder due to an acquired platelet anomaly
rare hematological diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 27084250[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27084250[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
25 annotations · validated 2023-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012050 | Anasarca | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | Diagnostic criterion |
| HP:0001433 | Hepatosplenomegaly | Diagnostic criterion |
| HP:0002716 | Lymphadenopathy | |
| HP:0001873 | Thrombocytopenia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | Diagnostic criterion |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Diagnostic criterion |
| HP:0031052 | Elevated vascular endothelial growth factor level | |
| HP:0001945 | Fever | Diagnostic criterion |
| HP:0002240 | Hepatomegaly | |
| HP:0030783 | Increased circulating interleukin 6 concentration | |
| HP:0005513 | Increased megakaryocyte count | Diagnostic criterion |
| HP:0001974 | Increased total leukocyte count | |
| HP:0011974 | Myelofibrosis | Diagnostic criterion |
| HP:0002202 | Pleural effusion | Diagnostic criterion |
| HP:0000083 | Renal insufficiency | Diagnostic criterion |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0045041 | Reduced circulating lactate dehydrogenase concentration | |
| Excluded (0%) | ||
| HP:0002960 | Autoimmunity | Diagnostic criterion |
| HP:0012156 | Hemophagocytosis | Diagnostic criterion |
| HP:0002664 | Neoplasm | Diagnostic criterion |
| HP:0032288 | Polyclonal elevation of circulating IgG | Diagnostic criterion |
| HP:0032262 | Pulmonary tuberculosis | Diagnostic criterion |
| HP:0031691 | Severe viral infection | Diagnostic criterion |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 27084250[PMID]_36148768[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457077
- This record as JSON: /data/d/457077.json