platelet-type bleeding disorder 18

Platelet-Type Bleeding Disorder 18: A Rare Hematologic Disease

Platelet-type bleeding disorder 18 (PTBD18) is a rare hematologic disease characterized by defective platelet function, leading to mucocutaneous bleeding. This condition typically presents in infancy, around 18 months of age, with symptoms such as:

• Prolonged and severe epistaxis (nosebleeds)
• Hematomas (bruises)
• Bleeding after tooth extraction
• Massive menorrhagia (heavy menstrual bleeding)
• Chronic anemia

This disorder is caused by a deficiency in the CalDAG-GEFI gene, which affects platelet function. The condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to inherit the disease.

Key Features:

• Rare hematologic disease
• Defective platelet function
• Mucocutaneous bleeding starting in infancy (around 18 months of age)
• Symptoms include prolonged and severe epistaxis, hematomas, bleeding after tooth extraction, massive menorrhagia, and chronic anemia

References:

• [1] Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
• [10] Platelet-type bleeding disorder 18. Summary. Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction.
• [12] Bleeding disorder, platelet-type, 18 is a rare hematologic disease caused by CalDAG-GEFI deficiency, leading to defective platelet function. It is characterized by mucocutaneous bleeding starting in infancy, around 18 months of age, with symptoms such as prolonged and severe epistaxis, hematomas, bleeding after tooth extraction, massive menorrhagia, and chronic anemia.

Note: The references provided are based on the search results within the context.

Common Signs and Symptoms of Platelet-Type Bleeding Disorder

Platelet-type bleeding disorders are characterized by a tendency to bleed or bruise easily, which can be caused by either a low platelet count (thrombocytopenia) or platelet dysfunction. The following are common signs and symptoms associated with this condition:

• Easy bruising: People with platelet function disorders tend to bruise more easily than others, even from minor trauma [5].
• Bleeding from the mouth, nose, or digestive system: Bleeding from these areas can be a sign of platelet dysfunction or thrombocytopenia [3][6].
• Excessive bleeding: The bleeding has the characteristics of a platelet disorder, and gastrointestinal tract bleeding is the most frequent manifestation [9].
• Petechiae: Tiny red dots (petechiae) on the skin can be an early sign of platelet disorders, often appearing on the lower legs [7][8].
• Easy or excessive bruising (purpura): This can occur due to platelet dysfunction or thrombocytopenia [8].

It's essential to note that symptoms can vary from mild to severe and may not always be present. If you suspect a platelet-type bleeding disorder, consult with a healthcare professional for proper diagnosis and treatment.

References: [1] Not provided (no relevant information) [2] Not provided (no relevant information) [3] Generally symptoms of a platelet disorder are similar, with bruising from minor trauma, bleeding from the mouth, nose or digestive system and excessive bleeding... [4] Not provided (no relevant information) [5] People with platelet function disorders tend to bleed or bruise more easily. They may have a normal number of platelets or a low platelet count. Their platelet... [6] Jan 15, 2020 — If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding... [7] Symptoms and Signs of Platelet Disorders · Multiple petechiae in the skin (typically most evident on the lower legs) · Scattered small ecchymoses at sites of... [8] Apr 19, 2022 — Petechiae · Easy or excessive bruising (purpura) · Superficial bleeding into the skin that appears as a rash of pinpoint-sized reddish-purple... [9] Nov 20, 2023 — The bleeding has the characteristics of a platelet disorder, and gastrointestinal tract bleeding is the most frequent manifestation. Platelet...

Diagnostic Tests for Platelet-Type Bleeding Disorders

Platelet-type bleeding disorders are a group of conditions characterized by excessive bleeding or clotting due to abnormalities in platelet function or number. To diagnose these disorders, doctors use various diagnostic tests that assess the platelets' ability to aggregate and promote clotting.

• Complete Blood Count (CBC): A simple blood test that measures the number of platelets, along with other blood cells, can help identify platelet-type bleeding disorders [6].
• Platelet Function Tests: These tests use specialized equipment to measure the ability of platelets to aggregate and promote clotting in a sample. They are an essential part of diagnosing platelet function disorders [3].
• Peripheral Blood Smear: A microscopic examination of blood cells can reveal abnormalities in platelet morphology, which may indicate a platelet disorder [4].
• Platelet Count Test: This test measures the number of platelets in the blood and is often used to diagnose conditions that cause too much bleeding or clotting [1].

In addition to these tests, doctors may also use genetic tests to diagnose inherited platelet disorders. These tests can provide useful information for individuals with a congenital condition [5]. A combination of blood tests, including a CBC, peripheral blood smear, and platelet function screening test, can often lead the investigator to a diagnosis [8].

References:

• [1] Aug 15, 2024 — Platelet tests check for conditions that cause too much bleeding or blood clotting.
• [3] Nov 9, 2021 — Platelet function tests are a group of assays that use specialized equipment to measure the ability of platelets to aggregate and promote clotting in a sample.
• [4] The clinical workup for detecting inherited platelet disorders should begin with a careful review of the complete blood cell count and peripheral blood smear.
• [5] Doctors use blood tests and genetic tests to diagnose platelet function disorders. Genetic tests can provide useful information for someone with a congenital condition.
• [6] Doctors can diagnose many platelet disorders by a simple blood test (a complete blood count [CBC]), which includes measurement of the number of platelets.
• [8] Feb 1, 2002 — Simple procedures, such as platelet count, peripheral blood smear, and a platelet function screening test, will often lead the investigator to ...

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 depending on the underlying cause and severity of the condition. Here are some common treatment options:

• Medications to increase platelet count: Medicines such as romiplostim (Nplate), eltrombopag (Promacta) and avatrombopag (Doptelet) can help bone marrow make more platelets [10]. These types of medicines can increase the risk of blood clots.
• Medications to reduce bleeding: Antifibrinolytic drugs, such as Cyklokapron (tranexamic acid) and Amicar (aminocaproic acid), can help hold a clot in place once it has formed [4]. These medications slow natural clots in the body from breaking down, to help slow or stop bleeding.
• Medications to prevent platelet destruction: Corticosteroids can help prevent bleeding by slowing down platelet destruction [7]. They can lead to a higher platelet count in 2 to 3 weeks.

Other Treatment Options

In addition to medications, other treatment options may include:

• Platelet transfusions: If your platelet level becomes too low, your doctor can replace lost blood with transfusions of packed red blood cells or platelets [11].
• Blood or platelet transfusions: Blood or platelet transfusions may be necessary if you have severe bleeding or a low platelet count [2].

Important Notes

It's essential to note that treatment varies depending on the type of platelet function disorder a person has [6]. Some medications can make platelet function and bleeding symptoms worse, so it's crucial to work with your healthcare provider to determine the best course of treatment for you.

Differential Diagnosis of Platelet-Type Bleeding Disorder

Platelet-type bleeding disorders are a group of conditions characterized by abnormal platelet function or count, leading to increased bleeding tendency. The differential diagnosis of these disorders involves ruling out other causes of thrombocytopenia (low platelet count) and platelet dysfunction.

Causes of Thrombocytopenia:

• Acute infection [1]
• Chronic inflammatory disorders (e.g., rheumatoid arthritis, inflammatory bowel disease) [1]
• Tuberculosis [1]

Platelet Disorders:

• Thrombocytopenia: A condition characterized by a low platelet count in the blood, which can lead to mild to serious bleeding. [7]
• Platelet Function Disorders: Conditions where platelets do not work properly, leading to increased bleeding tendency. People with these disorders may have a normal number of platelets or a low platelet count. [8]

Specific Platelet-Type Bleeding Disorders:

• Bernard-Soulier syndrome
• Gray platelet syndrome
• GPVI deficiency
• MYH9-related disease
• Paris-Trousseau syndrome
• Platelet-type VWD

To diagnose these conditions, doctors may perform a complete blood count (CBC) test to measure the number of platelets in the blood. A peripheral blood film examination can also be done to rule out other causes of thrombocytopenia. [3][4]

In some cases, lab tests are needed to diagnose specific platelet disorders, such as Platelet Storage Pool Disease (SPD). Symptoms of SPD include nosebleeds, bleeding from the gums, and easy bruising. [9]