Macrophage activation syndrome
- Type
- Clinical syndrome
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrophage activation syndrome | |
| fr | Syndrome d'activation macrophagique | |
| de | Makrophagen-Aktivierungssyndrom | |
| es | Síndrome de activación macrofágica | |
| it | Sindrome da attivazione dei macrofagi | |
| nl | Macrofaagactivatiesyndroom | |
| pt | Síndrome de activação macrofágica | |
| pl | Zespół aktywacji makrofagów | |
| cs | Syndrom aktivovaných makrofágů | |
| uk | Синдром активації макрофагів | |
| zh | 吞噬细胞激活综合征 | |
| tr | Makrofaj aktivasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D76.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | validated |
| MONDO | 0015545 | E | validated | |
| MeSH | D055501 | E | validated | |
| UMLS | C1096155 | E | validated | |
| GARD | 12124 | E | validated | |
| MedDRA | 10053867 | 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:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases - ORPHA:158041Secondary hemophagocytic lymphohistiocytosis
rare immunological 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 | Not yet 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
29 annotations · validated 2021-11-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011117 | Abnormal circulating interleukin concentration | |
| HP:0040089 | Abnormal natural killer cell count | Diagnostic criterion |
| HP:0011118 | Abnormality of tumor necrosis factor secretion | |
| HP:0001903 | Anemia | |
| HP:0002960 | Autoimmunity | |
| HP:0001410 | Decreased liver function | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0001945 | Fever | Diagnostic criterion |
| HP:0012156 | Hemophagocytosis | Diagnostic criterion |
| HP:0003073 | Hypoalbuminemia | |
| HP:0003281 | Increased circulating ferritin concentration | Diagnostic criterion |
| HP:0030783 | Increased circulating interleukin 6 concentration | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0012649 | Increased inflammatory response | |
| HP:0030356 | Increased serum interferon-gamma level | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001875 | Decreased total neutrophil count | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration | |
| HP:0002155 | Hypertriglyceridemia | Diagnostic criterion |
| HP:0011900 | Hypofibrinogenemia | Diagnostic criterion |
| HP:0005681 | Juvenile rheumatoid arthritis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001744 | Splenomegaly | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0001298 | Encephalopathy | |
| HP:0012115 | Hepatitis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002725 | Systemic lupus erythematosus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 31732958[PMID]_30774631[PMID]_28409239[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158061
- This record as JSON: /data/d/158061.json