Familial Platelet Disorder With Associated Myeloid Malignancy

Familial platelet disorder with associated myeloid malignancy (FPD/AML) is an uncommon hereditary blood condition that can increase the chance of developing specific blood cancers due to a dysfunction in platelets. This disorder occurs due to mutations in the RUNX1 gene, which plays a crucial role in producing a protein required for blood cell growth and performance. This article will cover the causes, symptoms, identification, and management of FPD/AML.

What Are the Causes of Familial Platelet Disorder With Associated Myeloid Malignancy?

FPD/AML is a rare genetic disorder that increases the risk of developing blood cancers. Some of the possible causes of FPD/AML are:

• Inherited Genetic Mutations: FPD/AML is caused by mutations in certain genes that are inherited from one or both parents. These mutations affect the production and function of blood cells and further result in an increased chance of developing blood cancers.

• Autosomal Dominant Inheritance:FPD/AML is inherited in an autosomal dominant pattern, in which only one copy of the mutated gene can develop the disorder. This increases the risk of developing the disorder in families with a history of FPD/AML.

• Mutations in the RUNX1 Gene: Most FPD/AML cases are caused by mutations in the RUNX1 gene and this provides instructions for making a protein that plays a crucial role in the development of blood cells. Mutations in this gene can disrupt blood cell production, increasing the risk of developing blood cancers.

• Other Genetic Mutations:In rare cases, mutations in other genes involved in developing blood cells, such as ANKRD26, ETV6, and DDX41, may lead to FPD/AML.

• Environmental Factors: While genetic mutations are the primary cause of FPD/AML, exposure to certain chemicals, radiation, or toxins may also increase the risk of developing blood cancers in individuals with FPD/AML.

• Age: Although FPD/AML is a genetic disorder that can be present at birth, the risk of developing blood cancers increases with age. As individuals with FPD/AML age, their risk of developing blood cancers also increases.

What Are the Symptoms of Familial Platelet Disorder With Associated Myeloid Malignancy?

FPD/AML is a rare genetic disorder that increases the risk of developing blood cancers and can cause a variety of symptoms. Some of the common symptoms of FPD/AML are:

• Abnormal Bleeding and Bruising: Individuals with FPD/AML may experience abnormal bleeding and bruising due to a low platelet count. This can include petechiae (small red or purple spots on the skin), easy bruising, and bleeding that takes longer than usual to stop.

• Fatigue and Shortness of Breath: It is a common symptom of FPD/AML, as the body may struggle to produce enough healthy blood cells to carry oxygen throughout the body. This can lead to shortness of breath, particularly during physical activity.

• Increased Risk of Infections: FPD/AML can make individuals more susceptible to infections by weakening their immune system,. Recurrent infections, particularly of the skin, mouth, and urinary tract, are common symptoms of the disorder.

• Bone and Abdominal Pain: As the disease progresses, FPD/AML can affect the bone marrow, leading to bone pain. An enlarged spleen, which can occur due to the disorder, can also cause abdominal pain.

• Other Symptoms: Other symptoms of FPD/AML can include fever, weight loss, night sweats, and a general feeling of malaise. These symptoms may be more common in the later stages of the disease.

How to Diagnose Familial Platelet Disorder With Associated Myeloid Malignancy?

Diagnosing FPD/AML involves a series of tests to assess blood cell count, platelet function, genetic makeup, and family history. Here are the common steps involved in diagnosing FPD/AML:

• Physical Examination and Medical History: This will begin by performing a physical examination and reviewing the individual's medical history. They will ask about symptoms, family history, and any relevant risk factors.

• Blood Tests: Blood tests are a crucial part of the diagnostic process for FPD/AML. A complete blood count (CBC) can help identify abnormalities in the number and type of blood cells. Platelet function tests may also be performed to assess how well the platelets are functioning.

• Bone Marrow Biopsy: In this procedure a sample of bone marrow is taken from the hip or another bone. The sample is then examined under a microscope to look for abnormalities in the cells. This can help determine if the individual has FPD/AML and what stage the disease is in.

• Genetic Testing: Genetic testing can help identify specific mutations that are associated with FPD/AML. This can help confirm a diagnosis and provide information about the individual's risk of developing related conditions in the future.

• Family History Evaluation: Since FPD/AML is a genetic disorder, it is important to evaluate the family history of the individual being tested. If other family members are diagnosed with FPD/AML or related conditions, it may increase the individual's risk of having the disorder.

What Is the Treatment for Familial Platelet Disorder With Associated Myeloid Malignancy?

Although there is no known cure for FPD/AML, there are several treatment options available which are as follows:

• Platelet Transfusions: Individuals with FPD/AML often have low platelet counts, leading to bleeding and bruising. Platelet transfusions can help increase the number of platelets in the blood, reducing the risk of bleeding.

• Chemotherapy: Chemotherapy is a common treatment for AML and MDS. In this

procedure, drugs are used to kill cancer cells. The type of chemotherapy used will depend on the individual's age, overall health, and the specific type and stage of the disease.

• Stem Cell Transplant: It is also known as a bone marrow transplant In this procedure damaged or diseased bone marrow is replaced with healthy stem cells. This can help to restore normal blood cell production and reduce the risk of cancer recurrence. However, this is a highly invasive and risky procedure, and not all individuals with FPD/AML are eligible for a stem cell transplant.

• Supportive Care: Individuals with FPD/AML may require supportive care to manage symptoms and improve their quality of life. This may include pain management, blood transfusions, and antibiotics to prevent infections.

• Clinical Trials: These are research studies that test new treatments or drugs for a particular disease. Individuals with FPD/AML may be eligible to participate in clinical trials, which can offer access to new and potentially more effective treatments.

Conclusion:

Familial Platelet Disorder with Associated Myeloid Malignancy (FPD/AML) is an uncommon hereditary condition that raises the likelihood of developing a specific form of blood cancer. FPD/AML is caused by mutations in specific genes that are passed down from parents. People with FPD/AML may encounter unusual bleeding and bruising and are at a higher risk of developing acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Genetic counseling and testing can assist in identifying individuals who are at risk of developing FPD/AML and providing them with appropriate care and support.