BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuCongenital platelet function defectsPlatelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenitalCongenital platelet function defects are conditions that prevent clotting elements in the blood, called platelets, from working as they should. Platelets help the blood clot. Congenital means present from birth. Causes Congenital platelet function defects are bleeding disorders that cause reduced platelet function.Most of the time, people with these disorders have a family history of a bleeding disorder, such as:Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. Platelets are typically large and reduced in number. This disorder may cause severe bleeding. Glanzmann thrombasthenia is a condition caused by the lack of a protein needed for platelets to clump together. Platelets are typically of normal size and number. This disorder may also cause severe bleeding. Glanzmann thrombastheniaGlanzmann thrombasthenia is a rare disorder of blood platelets. Platelets are particles in the blood that aid in blood clotting.Read Article Now Book Mark Article Platelet storage pool disorder (also called platelet secretion disorder) occurs when substances called granules inside platelets aren't stored or released properly. Granules help platelets function properly. This disorder causes easy bruising or bleeding. Symptoms Symptoms may include any of the following:Excessive bleeding during and after surgery Bleeding gums Bleeding gumsBleeding gums can be a sign that you have or may develop gum disease. Ongoing gum bleeding may be due to plaque buildup on the teeth. It can also b...Read Article Now Book Mark Article Easy bruising or pinpoint red spots on the skin Heavy menstrual periods Nosebleeds Prolonged bleeding with small injuries Exams and Tests The following tests may be used to diagnose this condition:Complete blood count (CBC) Complete blood count (CBC)A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...ImageRead Article Now Book Mark Article Partial thromboplastin time (PTT) Partial thromboplastin time (PTT)Partial thromboplastin time (PTT) is a blood test that looks at how long it takes for blood to clot. It can help tell if you have a bleeding problem...Read Article Now Book Mark Article Platelet aggregation test Platelet aggregation testThe platelet aggregation blood test checks how well platelets, a part of blood, clump together and cause blood to clot.Read Article Now Book Mark Article Prothrombin time (PT) Prothrombin time (PT)Prothrombin time (PT) is a blood test that measures the time it takes for the liquid portion (plasma) of your blood to clot. It measures the functio...Read Article Now Book Mark Article Platelet function analysis Flow cytometryYou may need other tests. Your relatives may need to be tested. Treatment There is no specific treatment for these disorders. However, your health care provider will likely monitor your condition.You may also need:To avoid taking aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen, because they can worsen bleeding symptoms. Platelet transfusions, such as during surgery or dental procedures. Outlook (Prognosis) There is no cure for congenital platelet function disorders. Most of the time, treatment can control the bleeding. Possible Complications Complications may include:Severe bleeding Iron deficiency anemia in menstruating women Iron deficiency anemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. There are man...ImageRead Article Now Book Mark Article When to Contact a Medical Professional Contact your provider if:You have bleeding or bruising and do not know the cause. Bleeding does not respond to the usual method of control. Prevention A blood test can detect the gene responsible for the platelet defect. You may wish to seek genetic counseling if you have a family history of this problem and are considering having children.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Open ReferencesReferencesHall JE, Hall ME. Hemostasis and blood coagulation. In: Hall JE, Hall ME, eds. Guyton and Hall Textbook of Medical Physiology. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 37.Neff AT. Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 164.Zeller MP, Ning S, Arnold DM, Gabe C. Diseases of platelet number: immune thrombocytopenia, neonatal alloimmune thrombocytopenia, and posttransfusion purpura. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Salama ME, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 129.AllVideoImagesTogBlood clot formation - illustration Blood clotting normally occurs when there is damage to a blood vessel. Platelets immediately begin to adhere to the cut edges of the vessel and release chemicals to attract even more platelets. A platelet plug is formed, and the external bleeding stops. Next, small molecules, called clotting factors, cause strands of blood-borne materials, called fibrin, to stick together and seal the inside of the wound. Eventually, the cut blood vessel heals and the blood clot dissolves after a few days.Blood clot formationillustrationBlood clots - illustration Blood clots (fibrin clots) are the clumps that result when blood coagulates.Blood clotsillustrationBlood clot formation - illustration Blood clotting normally occurs when there is damage to a blood vessel. Platelets immediately begin to adhere to the cut edges of the vessel and release chemicals to attract even more platelets. A platelet plug is formed, and the external bleeding stops. Next, small molecules, called clotting factors, cause strands of blood-borne materials, called fibrin, to stick together and seal the inside of the wound. Eventually, the cut blood vessel heals and the blood clot dissolves after a few days.Blood clot formationillustrationBlood clots - illustration Blood clots (fibrin clots) are the clumps that result when blood coagulates.Blood clotsillustrationA Closer Look Heart failure - InDepth(In-Depth)Stroke - InDepth(In-Depth)Related Information Bleeding disorders(Condition)Bleeding(Injury)Bleeding into the skin(Symptoms)Platelet count(Medical Test)Iron deficiency anemia(Condition)Anemia - InDepth(In-Depth) Review Date: 2/2/2023 Reviewed By: Mark Levin, MD, Hematologist and Oncologist, Monsey, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Congenital platelet function defectsPlatelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenitalCongenital platelet function defects are conditions that prevent clotting elements in the blood, called platelets, from working as they should. Platelets help the blood clot. Congenital means present from birth. Causes Congenital platelet function defects are bleeding disorders that cause reduced platelet function.Most of the time, people with these disorders have a family history of a bleeding disorder, such as:Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. Platelets are typically large and reduced in number. This disorder may cause severe bleeding. Glanzmann thrombasthenia is a condition caused by the lack of a protein needed for platelets to clump together. Platelets are typically of normal size and number. This disorder may also cause severe bleeding. Glanzmann thrombastheniaGlanzmann thrombasthenia is a rare disorder of blood platelets. Platelets are particles in the blood that aid in blood clotting.Read Article Now Book Mark Article Platelet storage pool disorder (also called platelet secretion disorder) occurs when substances called granules inside platelets aren't stored or released properly. Granules help platelets function properly. This disorder causes easy bruising or bleeding. Symptoms Symptoms may include any of the following:Excessive bleeding during and after surgery Bleeding gums Bleeding gumsBleeding gums can be a sign that you have or may develop gum disease. Ongoing gum bleeding may be due to plaque buildup on the teeth. It can also b...Read Article Now Book Mark Article Easy bruising or pinpoint red spots on the skin Heavy menstrual periods Nosebleeds Prolonged bleeding with small injuries Exams and Tests The following tests may be used to diagnose this condition:Complete blood count (CBC) Complete blood count (CBC)A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...ImageRead Article Now Book Mark Article Partial thromboplastin time (PTT) Partial thromboplastin time (PTT)Partial thromboplastin time (PTT) is a blood test that looks at how long it takes for blood to clot. It can help tell if you have a bleeding problem...Read Article Now Book Mark Article Platelet aggregation test Platelet aggregation testThe platelet aggregation blood test checks how well platelets, a part of blood, clump together and cause blood to clot.Read Article Now Book Mark Article Prothrombin time (PT) Prothrombin time (PT)Prothrombin time (PT) is a blood test that measures the time it takes for the liquid portion (plasma) of your blood to clot. It measures the functio...Read Article Now Book Mark Article Platelet function analysis Flow cytometryYou may need other tests. Your relatives may need to be tested. Treatment There is no specific treatment for these disorders. However, your health care provider will likely monitor your condition.You may also need:To avoid taking aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen, because they can worsen bleeding symptoms. Platelet transfusions, such as during surgery or dental procedures. Outlook (Prognosis) There is no cure for congenital platelet function disorders. Most of the time, treatment can control the bleeding. Possible Complications Complications may include:Severe bleeding Iron deficiency anemia in menstruating women Iron deficiency anemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. There are man...ImageRead Article Now Book Mark Article When to Contact a Medical Professional Contact your provider if:You have bleeding or bruising and do not know the cause. Bleeding does not respond to the usual method of control. Prevention A blood test can detect the gene responsible for the platelet defect. You may wish to seek genetic counseling if you have a family history of this problem and are considering having children.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Open ReferencesReferencesHall JE, Hall ME. Hemostasis and blood coagulation. In: Hall JE, Hall ME, eds. Guyton and Hall Textbook of Medical Physiology. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 37.Neff AT. Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 164.Zeller MP, Ning S, Arnold DM, Gabe C. Diseases of platelet number: immune thrombocytopenia, neonatal alloimmune thrombocytopenia, and posttransfusion purpura. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Salama ME, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 129.