Congenital amegakaryocytic thrombocytopenia
| Congenital amegakaryocytic thrombocytopenia | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-9-CM | 287.33, 287.5 |
| OMIM | 604498 |
| Patient UK | Congenital amegakaryocytic thrombocytopenia |
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder.[1][2][3]
Presentation
The primary manifestations are thrombocytopenia and megakaryocytopenia, or low numbers of platelets and megakaryocytes. There is an absence of megakaryocytes in the bone marrow with no associated physical abnormalities.[4]
Cause
The cause for this disorder appears to be a mutation in the gene for the TPO receptor, c-mpl, despite high levels of serum TPO.[5][6] In addition, there may be abnormalities with the central nervous system including the cerebrum and cerebellum which could cause symptoms.[5]
Treatment
The primary treatment for CAMT is bone marrow transplantation.[7]
Bone Marrow/Stem Cell Transplant is the only thing that ultimately cures this genetic disease. Frequent platelet transfusions are required to ensure that platelet levels do not fall to dangerous levels, although this is not always the case. It is known for patients to continue to create very small numbers of platelets over time.
See also
References
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<references />, or <references group="..." />External links
- Amegakaryocytic Thrombocytopenia research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
- CAMT Specific Infant Bone Marrow Transplant Journal - One of the few non Medical Research related sources on the web with some information on CAMT. There appears to be no generic resource for CAMT patients on the web, and this is potentially due to the rariety of the disease
- https://www.facebook.com/topic.php?uid=38970584460&topic=6387#/group.php?gid=38970584460 This is the closest thing to a 'support group' for this condition.
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