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Glycoprotein VI deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Glycoprotein VI Deficiency

Glycoprotein VI deficiency is a bleeding disorder characterized by a decreased ability to form blood clots, leading to an increased risk of nosebleeds and prolonged bleeding following injury or surgery.

Overview

Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia).

The prevalence of glycoprotein VI deficiency is unknown. At least 15 cases have been described in the scientific literature.

Causes & Risk Factors

Glycoprotein VI deficiency can be caused by mutations in the GP6 gene, which provides instructions for making a protein called glycoprotein VI (GPVI). This protein is embedded in the outer membrane of blood cells called platelets, which are an essential component of blood clots. In response to an injury that causes bleeding, the GPVI protein begins clot formation by attaching (binding) to another protein called collagen that is found on cells. The binding of GPVI to collagen also signals additional platelets to come together to increase the size of the clot.

GP6 gene mutations can lead to the production of no GPVI protein; an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot, leading to the bleeding problems associated with glycoprotein VI deficiency.

Some cases of glycoprotein VI deficiency are not caused by GP6 gene mutations; instead these cases are acquired, which means they do not appear to be caused by inherited gene mutations. These acquired cases of glycoprotein VI deficiency are associated with autoimmune disorders such as immune thrombocytopenia purpura, Graves' disease, or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's own cells and tissues. Some individuals with these autoimmune disorders produce immune proteins called antibodies that attack and destroy the GPVI protein. As a result, there is a shortage (deficiency) of functional GPVI protein on the surface of platelets, which leads to bleeding problems characteristic of glycoprotein VI deficiency.

Learn more about the gene associated with Glycoprotein VI deficiency

  • GP6

Inheritance Pattern

When this condition is caused by mutations in the GP6 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • BDPLT11
  • Bleeding diathesis due to a collagen receptor defect
  • Bleeding disorder, platelet-type, 11
  • GP VI deficiency

Frequently Asked Questions

Diagnosis usually starts with a detailed bleeding history and routine coagulation tests that are often normal. Specific confirmation is done by flow cytometry or immunoblotting of platelets to show absent or markedly reduced GPVI surface expression, and by genetic sequencing of the GP6 gene to identify pathogenic mutations.
For acute bleeding, topical hemostatic agents (e.g., tranexamic acid mouthwash or spray) and, if needed, platelet transfusions are the mainstays. Desmopressin (DDAVP) is generally ineffective because the defect is in platelet‑collagen interaction, not in factor release. For planned surgeries, many clinicians give prophylactic platelet transfusions or, in selected cases, recombinant activated factor VII to achieve hemostasis.
Most reported cases are due to autosomal‑recessive GP6 mutations, meaning both parents are carriers and have a 25 % chance of having another affected child. Heterozygous carriers are usually asymptomatic but may have mildly reduced GPVI levels. Genetic counseling is recommended, and targeted testing of siblings or future offspring can be offered.
void activities with a high risk of trauma (e.g., contact sports) when possible, use a soft toothbrush and avoid aggressive nose picking. Keep a list of emergency contacts and a medical alert card noting “GPVI deficiency – platelet dysfunction.” Carry tranexamic acid powder or tablets for minor mucosal bleeds, and discuss any planned dental or surgical procedures with a hematologist well in advance.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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