platelet-type bleeding disorder 12

Platelet-Type Bleeding Disorder 12 (BDPLT12)

Platelet-type bleeding disorder 12, also known as BDPLT12, is a rare genetic disorder that affects the function of platelets in the blood. Platelets play a crucial role in blood clotting and preventing excessive bleeding.

• Characteristics: The disorder is characterized by mildly increased bleeding due to a platelet defect [9]. This can manifest as easy bruising (ecchymoses), nosebleeds (epistaxis), heavy menstrual bleeding (menorrhagia), and prolonged bleeding after injuries or surgical procedures.
• Genetic Basis: The PTGS1 gene, which encodes prostaglandin-endoperoxidase synthase-1 (COX1 or PGHS1), is associated with this disorder [10]. This enzyme catalyzes the formation of prostaglandins, which are essential for platelet activation and aggregation.
• Clinical Features: The clinical features of BDPLT12 include mild bleeding tendencies, impaired platelet aggregation in response to collagen, and a normal platelet count [6].
• Inheritance Pattern: The disorder is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [5].

It's essential to note that BDPLT12 is a rare disorder, and more research is needed to fully understand its characteristics and implications. If you suspect you or a family member may have this condition, consult with a healthcare professional for proper evaluation and guidance.

References: [6] - Clinical resource with information about Platelet-type bleeding disorder 12 and its clinical features [9] - Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. [10] - The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1.

Symptoms of Platelet-Type Bleeding Disorder

Platelet-type bleeding disorders are characterized by a tendency to bleed or bruise easily, due to a problem with the platelets in your blood. The symptoms can vary depending on the specific condition, but here are some common signs and symptoms:

• Bleeding from minor cuts or injuries: People with platelet-type bleeding disorders may experience prolonged bleeding from even minor cuts or scrapes.
• Easy bruising: They may notice that they bruise easily, even from minor bumps or falls.
• Prolonged bleeding after dental procedures: Bleeding can persist for an extended period after dental procedures, such as tooth extractions.
• Gastrointestinal bleeding: In some cases, people with platelet-type bleeding disorders may experience bleeding in the digestive tract, which can lead to symptoms like black tarry stools or blood in the stool.

Other possible symptoms

In addition to these common signs and symptoms, people with platelet-type bleeding disorders may also experience:

• Fatigue: Feeling tired or weak due to chronic bleeding.
• Dizziness or lightheadedness: Some individuals may feel dizzy or lightheaded when standing up quickly or experiencing sudden changes in blood pressure.
• Headaches: Frequent or severe headaches can be a symptom of platelet-type bleeding disorders.

Important note

It's essential to seek medical attention if you experience any of these symptoms, as they can indicate a serious underlying condition. A healthcare provider will diagnose and treat the specific cause of your symptoms.

References:

• [12] Symptoms may include: Chest pain and heart palpitations, difficulty breathing; Dizziness, changes in your vision, weakness, numbness, slurred speech, or transient ischemic attacks; Extreme tiredness; Headaches; Pain and swelling of leg(s) Spleen or liver that is larger ...
• [13] Rarely, immune thrombocytopenia causes bleeding into the brain. This can be fatal. Someone who's pregnant with a low platelet count or who's bleeding has a greater risk of heavy bleeding during delivery.
• [14] Symptoms. People with high platelet levels often don't have signs or symptoms. When symptoms occur, they're often related to blood clots. Examples include: Headache. Confusion or changes in speech. Chest pain. Shortness of breath and nausea. Weakness. Burning pain in the hands or feet. Less commonly, very high platelet levels may cause bleeding.

Diagnostic Tests for Platelet-Type Bleeding Disorder

Platelet-type or type-2B von Willebrand disease (VWD) is a rare bleeding disorder that affects the platelets in the blood. To diagnose this condition, several tests can be performed.

• Testing for VWF antigen and activity levels: This test measures the amount of von Willebrand factor (VWF) present in the blood. Low levels of VWF can indicate platelet-type VWD.
• Low-dose ristocetin-induced platelet aggregation: This test assesses how well platelets aggregate or stick together when exposed to a specific substance called ristocetin. Abnormal results can suggest platelet-type VWD.

These tests can help diagnose platelet function disorders, quantitative platelet disorders, factor deficiencies, and factor inhibitors. They are essential in determining the underlying cause of bleeding symptoms and developing an appropriate treatment plan.

References:

• Testing for VWF antigen and activity levels and low-dose ristocetin-induced platelet aggregation can establish this diagnosis [11].
• These tests can help diagnose platelet function disorders, quantitative platelet disorders, factor deficiencies, and factor inhibitors [12].

Treatment Options for Platelet-Type Bleeding Disorder

Platelet-type bleeding disorders, also known as thrombocytopenia or platelet function disorders, can be treated with various medications to increase platelet count and improve blood clotting. Here are some common drug treatments:

• Medications that stimulate platelet production: Medicines such as romiplostim (Nplate), eltrombopag (Promacta) and avatrombopag (Doptelet) help bone marrow make more platelets [1].
• Immunosuppressive medications: Rituximab (Rituxan, Ruxience, Truxima) helps increase the platelet count by reducing the immune system response damaging them [2].
• Antiplatelet drugs: These medications prevent platelets from sticking together and forming blood clots. They're used to treat heart attacks and strokes [11]. However, they can make platelet function and bleeding symptoms worse in people with platelet-type bleeding disorders [6].

Other Treatment Options

In addition to medication, other treatment options may include:

• Platelet transfusions: Transfusing platelets from a donor's blood can help increase the platelet count and improve blood clotting [3].
• Von Willebrand factor-rich concentrates: These are used in people with low von Willebrand factor levels to help stabilize clots and prevent bleeding [4].

Important Considerations

It's essential to note that treatment plans vary depending on the type of platelet disorder, symptoms, and individual circumstances. Your healthcare provider will work with you to determine the best course of treatment.

References:

[1] - Medicines such as romiplostim (Nplate), eltrombopag (Promacta) and avatrombopag (Doptelet) help bone marrow make more platelets. [2] - Rituximab (Rituxan, Ruxience, Truxima) helps increase the platelet count by reducing the immune system response damaging them. [3] - Transfusion of platelets remains the primary therapy of severe bleeding. [4] - Platelet transfusions and von Willebrand factor-rich concentrates are used in people with low von Willebrand factor levels to help stabilize clots and prevent bleeding.

Differential Diagnosis of Platelet-Type Bleeding Disorder

Platelet-type bleeding disorders are a group of conditions characterized by abnormal platelet function or production, leading to excessive bleeding or bruising. The differential diagnosis of these disorders involves identifying the underlying cause of the bleeding symptoms.

• Idiopathic Thrombocytopenic Purpura (ITP): This is an autoimmune disorder where the immune system produces antibodies against platelets, leading to their destruction and a low platelet count. ITP can be diagnosed by exclusion of other causes of thrombocytopenia, such as bone marrow failure or lymphoma [3].
• Thrombotic Thrombocytopenic Purpura (TTP): This is a rare disorder characterized by the formation of blood clots in small blood vessels throughout the body. TTP can be caused by a deficiency of ADAMTS13, a protein that regulates platelet activation [12].
• Bernard-Soulier Syndrome (BSS): This is a rare genetic disorder characterized by large platelets and a deficiency of GPIb/IX/V receptors on the surface of platelets. BSS can be diagnosed by flow cytometry analysis of platelet surface receptors [14].
• Glanzmann's Thromboasthenia: This is a rare bleeding disorder caused by a deficiency of platelet glycoproteins, leading to impaired platelet aggregation and function.
• Platelet-type von Willebrand Disease (vWD): This is a rare genetic disorder characterized by a deficiency of GPIb/IX/V receptors on the surface of platelets, leading to impaired platelet adhesion and aggregation.

Key Points

• Platelet-type bleeding disorders are characterized by abnormal platelet function or production.
• Differential diagnosis involves identifying the underlying cause of the bleeding symptoms.
• Common causes include ITP, TTP, BSS, Glanzmann's Thromboasthenia, and platelet-type vWD.

References

[12] The fact that bleeding responds to fibrinolytic inhibitors rather than platelet transfusions led to the discovery that platelets in this disorder possessed unusually large amounts of urokinase-type plasminogen activator, a protein that is released on platelet activation [4, 49]. [14] When thrombocytopenia occurs, platelet size provides important information for differentiating some IPDs. If the patient shows macrothrombocytopenia, platelet-type vWD, BSS, MYH9-related disorders, and GPS should be considered after excluding ITP . For BSS diagnosis, platelet surface GPIb/IX analysis using flow cytometry is required .