Congenital amegakaryocytic thrombocytopenia

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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
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:

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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Contributors: Prab R. Tumpati, MD