Symptoms
Easy bruising
Prolonged bleeding after cuts or surgery
Nosebleeds (epistaxis)
Heavy menstrual periods (menorrhagia) in females
Bleeding from gums
Postpartum hemorrhage (bleeding after childbirth)
Less frequently, bleeding into joints or muscles. Severity varies among affected individuals.
Causes
Delta storage pool deficiency is primarily caused by genetic mutations affecting genes involved in the formation, transport, or content of dense granules within platelets. These mutations are usually inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Sporadic mutations (occurring for the first time in an individual) are less common. Specific genes implicated vary depending on the exact type of delta storage pool deficiency.
Medicine Used
Desmopressin (DDAVP): Can help release von Willebrand factor and factor VIII, which can temporarily improve platelet function.
Antifibrinolytics (e.g., tranexamic acid, aminocaproic acid): Help stabilize blood clots and reduce bleeding.
Platelet transfusions: Used in cases of severe bleeding or before surgery.
Hormonal therapies (e.g., birth control pills): Can help manage heavy menstrual bleeding.
Topical hemostatic agents: Applied directly to wounds to stop bleeding.
Is Communicable
No, delta storage pool deficiency is not communicable. It is a genetic disorder, not an infectious disease. It cannot be transmitted from person to person through contact, air, or any other means.
Precautions
Inform all healthcare providers (doctors, dentists, etc.) about the diagnosis before any procedures or treatments.
Avoid medications that can interfere with platelet function (e.g., aspirin, NSAIDs).
Use caution when participating in activities with a high risk of injury.
Consider genetic counseling if planning to have children.
Wear medical alert identification.
Maintain good oral hygiene to prevent gum bleeding.
How long does an outbreak last?
Since delta storage pool deficiency is a chronic condition, not an infectious disease, the term "outbreak" doesn't apply. Individuals with delta storage pool deficiency experience bleeding episodes throughout their lives, varying in frequency and severity. These episodes can be managed with appropriate treatment and preventative measures.
How is it diagnosed?
Complete Blood Count (CBC) with Platelet Count: To assess the number of platelets. Platelet count is usually normal.
Peripheral Blood Smear: Microscopic examination of blood to assess platelet morphology.
Platelet Aggregation Studies: Measures how well platelets clump together in response to various substances (ADP, collagen, epinephrine, arachidonic acid). Reduced response to ADP is characteristic.
Electron Microscopy of Platelets: To visualize the number and structure of dense granules.
Flow Cytometry: Can detect markers on platelet surfaces, which might indicate granule abnormalities.
Genetic Testing: Can identify specific gene mutations associated with delta storage pool deficiency.
Timeline of Symptoms
Symptoms are often present from early childhood, although mild cases might not be diagnosed until later in life, especially after a triggering event like surgery or trauma. There is no defined timeline for specific symptoms, as they depend on individual circumstances and triggers.
Important Considerations
Accurate diagnosis is crucial to avoid unnecessary treatments or complications.
Management should be individualized based on the severity of bleeding symptoms.
Patients should receive education about their condition and how to manage bleeding episodes.
Close collaboration between hematologists, primary care physicians, and other specialists is important.
Surgery and invasive procedures require careful planning and management to minimize bleeding risk. Platelet transfusions or other treatments might be needed before and after procedures.