Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare genetic condition that causes fewer platelets in the body. A person with CAMT is at risk of complications such as bleeding.
CAMT is a severe and rare genetic disorder affecting the bone marrow. Estimates suggest fewer than 5,000 people in the United States have the disease.
Thrombocytopenia refers to low blood platelet count. Platelets form in the bone marrow and stick together to form a plug when someone has a wound. If the individual has a low platelet count, their blood
People with CAMT have
This article discusses the symptoms and causes of CAMT. It looks at how doctors diagnose the condition and what treatments they may recommend. It also explores the outlook for people with CAMT.
Symptoms of CAMT may start to appear as soon as the newborn period.
However, bone marrow failure usually occurs
Additionally, platelet count may improve during an infant’s first year of life before worsening as the condition develops.
The symptoms of CAMT may include:
CAMT is a genetic disease resulting from variants in the THPO and MPL genes.
Because CAMT is an autosomal recessive disease, a person must inherit two copies of a mutated gene — one from each biological parent — to develop the condition.
People with CAMT
A complete blood count or blood smear test
Doctors diagnose CAMT via bone marrow biopsy. This technique involves using a needle and syringe to remove tissue from the bone marrow, usually in the hip area. People undergoing a bone marrow biopsy will typically receive local anesthesia.
The only way to cure CAMT with c-Mpl mutations — the
Prompt treatment can help prevent complications. As the disease progresses, people may require blood transfusions and have an increased risk of infection, which can affect transplant outcomes.
Other treatments for CAMT may include the following:
- platelet transfusions
- antibiotics to treat associated infections
- romiplostim for those with THPO mutations
- experimental gene therapies
People with CAMT need to avoid aspirin and nonsteroidal anti-inflammatory drugs.
The course of the disease mainly depends on the type of genetic mutation a person has.
However, once pancytopenia develops, there may be a negative outlook. Pancytopenia refers to a combination of low red blood cells, white blood cells, and platelet count.
One older study suggests that 30% of people may die from bleeding complications. Additionally, 20% die from bone marrow transplant complications.
CAMT is a rare genetic disease that involves the bone marrow. Because it affects platelet production, CAMT can cause bleeding.
The only cure for CAMT is a stem cell transplant, which comes with a risk of complications. The outlook for CAMT depends on the type of mutation a person has and whether or not they receive prompt treatment.