Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia | |
---|---|
Synonyms | CAMT |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Thrombocytopenia, bleeding, bruising |
Complications | Bone marrow failure, leukemia |
Onset | Neonatal |
Duration | Lifelong |
Types | N/A |
Causes | Genetic mutation in the MPL gene |
Risks | Family history |
Diagnosis | Blood test, bone marrow biopsy, genetic testing |
Differential diagnosis | Thrombocytopenia absent radius syndrome, Fanconi anemia |
Prevention | N/A |
Treatment | Hematopoietic stem cell transplantation, platelet transfusion |
Medication | Thrombopoietin receptor agonists |
Prognosis | N/A |
Frequency | Rare |
Deaths | N/A |
A rare inherited bone marrow failure syndrome
Classification | |
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External resources |
Congenital amegakaryocytic thrombocytopenia (CAT) is a rare genetic disorder characterized by a significant reduction in the number of platelets due to a failure of the bone marrow to produce megakaryocytes, the precursor cells to platelets. This condition is present at birth and is classified as a type of bone marrow failure syndrome.
Pathophysiology[edit | edit source]
Congenital amegakaryocytic thrombocytopenia is primarily caused by mutations in the MPL gene, which encodes the thrombopoietin receptor. Thrombopoietin is a crucial growth factor for the development of megakaryocytes. Mutations in the MPL gene lead to a lack of response to thrombopoietin, resulting in the absence or severe reduction of megakaryocytes in the bone marrow and consequently, thrombocytopenia.
Clinical Presentation[edit | edit source]
Patients with CAT typically present with symptoms related to low platelet counts, such as:
- Petechiae
- Ecchymosis
- Epistaxis
- Gingival bleeding
- Increased risk of intracranial hemorrhage
The condition is usually diagnosed in infancy or early childhood when these symptoms become apparent.
Diagnosis[edit | edit source]
The diagnosis of congenital amegakaryocytic thrombocytopenia involves:
- Complete blood count (CBC) showing isolated thrombocytopenia
- Bone marrow biopsy revealing a lack of megakaryocytes
- Genetic testing to identify mutations in the MPL gene
Management[edit | edit source]
Management of CAT focuses on supportive care and may include:
- Platelet transfusions to manage bleeding episodes
- Hematopoietic stem cell transplantation (HSCT) as a potential curative treatment
Prognosis[edit | edit source]
The prognosis for individuals with congenital amegakaryocytic thrombocytopenia varies. Without treatment, patients are at risk for severe bleeding complications. Hematopoietic stem cell transplantation can offer a cure, but the success of the procedure depends on various factors, including the availability of a suitable donor and the patient's overall health.
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