{"id":816,"date":"2024-10-28T09:17:28","date_gmt":"2024-10-28T09:17:28","guid":{"rendered":"https:\/\/haemophilia.org.ls\/wordpress\/?page_id=816"},"modified":"2024-11-08T13:48:40","modified_gmt":"2024-11-08T13:48:40","slug":"von-willebrands","status":"publish","type":"page","link":"https:\/\/haemophilia.org.ls\/index.php\/von-willebrands\/","title":{"rendered":"Von Willebrand’s"},"content":{"rendered":"\t\t
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The Other Bleeding Disorder<\/b><\/h1>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Von Willebrand’s disease (VWD) is considered the most common inherited bleeding disorder, affecting up to 3% of the global population. Despite being less well-known than hemophilia, it is recognized as a significant cause of bleeding tendency. The disorder was first described in 1926 by Finnish physician Erik von Willebrand, who observed a unique bleeding pattern among individuals living on islands between Sweden and Finland. These patients exhibited an abnormality in platelet function, which led von Willebrand to identify it as a distinct bleeding disorder.<\/h6>
Further research revealed that von Willebrand’s disease is linked to a deficiency or dysfunction of von Willebrand factor (VWF), a crucial protein involved in blood clotting. VWF plays an essential role in helping platelets adhere to blood vessel walls during injury, initiating the clotting process. In some cases of VWD, individuals also have a reduced level of factor VIII, another critical protein in the clotting cascade, further complicating the disorder. The relationship between VWF and factor VIII helps explain why some individuals with VWD may experience bleeding symptoms similar to those seen in hemophilia, particularly in more severe forms of the disease.<\/h6>
There are different types of von Willebrand’s disease, ranging from mild to severe, depending on the nature and extent of the VWF deficiency or dysfunction. Treatment approaches vary based on the type and severity, but typically involve strategies to increase the levels or activity of VWF and factor VIII to help manage bleeding episodes. As research into VWD continues to evolve, better diagnostic methods and more effective treatments are improving outcomes for those affected by this bleeding disorder.<\/h6><\/div><\/div><\/div><\/div>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Von Willebrand disease (VWD) is the most common inherited bleeding disorder, affecting an estimated 1% of the global population. It is caused by a deficiency or dysfunction of von Willebrand factor (VWF), a crucial protein that plays a central role in the blood clotting process. VWF is responsible for helping platelets adhere to injured blood vessels, initiating the formation of a clot to stop bleeding. In individuals with VWD, the body either produces insufficient amounts of VWF or the VWF it produces does not function properly, leading to delayed clot formation and prolonged bleeding episodes.<\/h6>
Despite its prevalence, VWD is often underdiagnosed. Many individuals experience mild symptoms, such as easy bruising or prolonged menstrual bleeding, which may not raise immediate concerns. As a result, a large proportion of people with VWD may remain undiagnosed throughout their lives. Studies suggest that as many as 90% of individuals with VWD have not received a formal diagnosis. This underdiagnosis is particularly concerning given that early identification and treatment can significantly improve outcomes and reduce the risk of complications.<\/h6>
Raising awareness about VWD and improving access to diagnostic testing are essential for ensuring timely diagnosis and appropriate management. Without a clear diagnosis, individuals may not receive the treatment they need to manage bleeding episodes effectively, which can impact their quality of life and increase the risk of long-term complications, such as joint damage or anemia.<\/h6>
Effective management of VWD often involves therapies aimed at increasing the levels or activity of VWF, such as desmopressin (for mild forms) or clotting factor concentrates (for more severe cases). With proper treatment, individuals with VWD can lead normal, active lives, and the risk of bleeding-related complications can be significantly reduced.<\/h6>
As awareness and diagnostic capabilities continue to improve, more people with VWD will be able to access appropriate care, leading to better management of the condition and an improved quality of life.<\/h6><\/div>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Classification of von Willebrand Disease\n<\/b><\/h2>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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1.<\/h4><\/td>

All VWD is caused by mutations at the VWF locus.<\/h4><\/td><\/tr>

2.<\/h4><\/td>

Type 1 VWD<\/strong>\u00a0refers to partial quantitative deficiency of VWF.<\/h4>

Type 2 VWD<\/strong>\u00a0refers to qualitative deficiency of VWF.<\/h4>

Type 3 VWD<\/strong>\u00a0refers to virtually complete deficiency of VW<\/h4><\/td><\/tr>

3.<\/h4><\/td>

Type 2A VWD<\/strong>\u00a0refers to qualitative variants with decreased platelet-dependent function that is associated with the absence of high-molecular-weight VWF multimers.<\/h4><\/td><\/tr>

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Type 2B VWD<\/strong>\u00a0refers to qualitative variants with increased affinity for platelet GPIb..<\/h4><\/td><\/tr>

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Type 2M VWD<\/strong>\u00a0refers to qualitative variants with decreased platelet-dependent function that is not caused by the absence of high-molecular-weight VWF multimers.<\/h4><\/td><\/tr>

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Type 2N VWD<\/strong>\u00a0refers to qualitative variants with markedly decreased affinity for factor VIII.<\/h4><\/td><\/tr>

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When recognised, a mixed phenotype caused by compound heterozygosity is indicated by separate classification of each allele, separated by a slash (\/).<\/h4><\/td><\/tr>

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For the description of mutations, numbering systems are suggested for amino acids and nucleotides.<\/h4><\/td><\/tr><\/tbody><\/table>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Symptoms of bleeding disorders in women\n<\/b><\/h2>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t1. Heavy or prolonged menstrual bleeding (menorrhagia)\n
2. Abnormal bleeding after childbirth
\n3. Easy bruising\nFrequent and prolonged nosebleeds eg falling off a bike, car accident, sporting injury\nHeavy and\/or long periods.
4. Prolonged bleeding after dental procedures\nAbnormal bleeding after surgery or trauma.
5. It can lead to low iron levels or anaemia\nBleeding or oozing for a long time after dental surgery or extractions, other surgery and medical procedures, injuries or accidents\nHeavy bleeding for extended time after childbirth (particularly with delayed or late postpartum haemorrhage)
\n6. Females with very low clotting factor levels may also have internal bleeding into joints, muscles, organs and soft tissues.<\/span>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tWhaT IS VON WILLEBRAND DISEASE?\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tVon Willebrand Disease (VWD) is the most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Willebrand factor (VWF), a key protein involved in the blood clotting process. VWF is essential for blood coagulation, as it helps platelets adhere to the walls of damaged blood vessels, initiating the formation of a clot to control bleeding. In individuals with VWD, either insufficient amounts of VWF are produced, or the VWF present does not function properly, leading to impaired clot formation and an increased risk of prolonged or excessive bleeding.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHow Is von willebrand disease diagnosed?\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tThe diagnosis of Von Willebrand Disease (VWD) typically involves a comprehensive approach, combining a detailed medical history, physical examination, and a series of laboratory tests. These tests include measuring the levels and activity of von Willebrand factor (VWF), assessing platelet function, and evaluating the clotting ability of the blood. Additionally, genetic testing may be conducted to identify specific mutations in the genes responsible for producing VWF. This multi-faceted diagnostic process is crucial for accurately diagnosing VWD and determining the type and severity of the condition, enabling the development of an effective treatment plan.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tis von willebrand disease treatable?\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tYes, Von Willebrand Disease (VWD) is treatable, and the primary goal of treatment is to prevent or minimize bleeding episodes and enhance the patient\u2019s quality of life. Management strategies vary depending on the type and severity of VWD but may include desmopressin (DDAVP) therapy, which stimulates the release of stored von Willebrand factor (VWF) from the blood vessels. For individuals with more severe forms of VWD or those who do not respond to DDAVP, replacement therapy with VWF-containing clotting factor concentrates is used to restore normal clotting function. Additionally, medications that promote clot formation, such as antifibrinolytics, may be prescribed to help stabilize clots and prevent excessive bleeding. These treatments, tailored to the individual\u2019s needs, can help manage symptoms effectively and improve overall well-being.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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MORE ABOUT VON WILLEBRAND DISEASE<\/b> <\/h1>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAn Equal Opportunity Disorder\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tVon Willebrand Disease (VWD), like hemophilia, is an inherited bleeding disorder, but it differs in its pattern of inheritance and its impact on both males and females. Unlike hemophilia, which primarily affects males due to its X-linked inheritance, VWD affects both men and women equally. Individuals with VWD have a 50% chance of passing the gene on to their children, regardless of the child\u2019s sex.\n\nIn general, Type I and Type II VWD are inherited in a *dominant* pattern. This means that if one parent carries the gene for the disorder, there is a 50% chance that the child will inherit the gene and, therefore, the disease. The severity of symptoms can vary; some children may have no noticeable symptoms, others may experience mild symptoms, and in rare cases, children may present with more severe manifestations. However, regardless of symptom severity, the child will carry the genetic trait and may pass it on to their own offspring.\n\nType III VWD, on the other hand, is inherited in a *recessive* pattern, meaning that a child must inherit the defective gene from both parents to develop the disease. Even if both parents have mild or no symptoms themselves, their children may experience severe bleeding symptoms if they inherit the gene from both sides.\n\nThis inheritance pattern differs from that of hemophilia, which is linked to the X chromosome. Since males have one X and one Y chromosome, they are more commonly affected by hemophilia. A male with hemophilia cannot pass the disorder on to his sons, as he only passes his Y chromosome to male offspring. Hemophilia is typically passed from mother to son through the X chromosome, making it an X-linked recessive disorder.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tA Difficult Diagnosis\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tDespite significant advancements in the understanding of Von Willebrand Disease (VWD), diagnosing the condition can still be challenging, especially in cases with mild symptoms that may be mistaken for other medical conditions. For instance, a woman with heavy menstrual bleeding might be incorrectly advised to undergo a hysterectomy, when the true underlying cause is VWD. When a healthcare provider encounters symptoms such as recurrent nosebleeds, easy bruising, heavy periods, or prolonged bleeding after routine procedures like tonsillectomy or tooth extractions, it is essential to consider VWD as a possible diagnosis. Diagnostic testing should be conducted to rule out this condition, as the typical screening tests for bleeding disorders may return normal results in individuals with milder forms of VWD.\n\nTo accurately diagnose VWD, specific tests measuring von Willebrand factor (VWF) levels and activity are necessary. These tests are more sensitive and reliable than general bleeding disorder screenings, especially in mild cases. The tests listed under \"Laboratory Tests for Von Willebrand Disease\" are typically the most effective for confirming the diagnosis.\n\nHowever, interpreting the results of these tests requires careful consideration of certain factors that could influence VWF levels. For example, VWF levels can be temporarily elevated in newborns, pregnant women, those using birth control pills, individuals under stress (such as crying children), or people who have recently undergone surgery or received a blood transfusion. Additionally, medications like aspirin and other drugs that affect platelet function can alter the results of platelet function tests. In such cases, it may be necessary to repeat the tests after a period of time to ensure accurate results and proper diagnosis.\n\nOnce a correct diagnosis of VWD is confirmed, treatment options can be considered. The physician will evaluate the severity of the disease and determine whether treatment is needed. If therapy is required, it will be tailored to the specific type and severity of VWD in order to manage symptoms effectively and improve the patient's quality of life.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\u201cAcquiring\u201d von Willebrand Disease\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tIn some cases, individuals may develop symptoms resembling Von Willebrand Disease (VWD) later in life, even without a family history of the condition. This form of the disease is believed to be caused by the development of antibodies that target and reduce the levels or functionality of von Willebrand factor (VWF). Additionally, VWD-like symptoms can also be acquired in association with other underlying health conditions, such as rheumatoid arthritis, systemic lupus erythematosus (SLE), kidney diseases, or certain types of cancer. In these cases, the acquired form of VWD is often secondary to the primary disease, and addressing the underlying condition may help manage or resolve the bleeding issues associated with VWD.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Laboratory Tests: von Willebrand Disease\n<\/h4>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\tBleeding time\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\tHow long does it take to stop bleeding? This finding is related to both the number and function of platelets and the amount of von Willebrand factor.\n\n\t\t\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\tFactor VIII clotting activity\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\tThis measurement, which is low or nonexistent in people with haemophilia A, is usually normal or only slightly lowered in people with von Willebrand disease. The measurement takes into account not just the level of Factor VIII, but also its ability to function.\n\n\t\t\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\tvWF antigen\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\tThis measures the amount of von Willebrand factor. Those with mild disease usually have 25-35% of the normal amount. Those with severe disease have less than 5%. A person\u2019s blood type may affects these levels.\n\n\t\t\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\tRistocetin cofactor activity\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\tA measurement of how well the von Willebrand factor is working.\n\n\t\t\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\tvWF multimers\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\tEvaluates the structure of the von Willebrand factor molecule. Helps in correctly classifying the type of von Willebrand disease.\n\n\t\t\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\tPlatelet function tests\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\tMeasure how well platelets work. Helps identify the type of von Willebrand disease or other disorder.\n\n\t\t\t\t\t<\/div>\n\t\t\t\t\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

The Other Bleeding Disorder Von Willebrand’s disease (VWD) is considered the most common inherited bleeding disorder, affecting up to 3% of the global population. Despite being less well-known than hemophilia, it is recognized as a significant cause of bleeding tendency. The disorder was first described in 1926 by Finnish physician Erik von Willebrand, who observed […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-816","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/pages\/816","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/comments?post=816"}],"version-history":[{"count":28,"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/pages\/816\/revisions"}],"predecessor-version":[{"id":1522,"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/pages\/816\/revisions\/1522"}],"wp:attachment":[{"href":"https:\/\/haemophilia.org.ls\/index.php\/wp-json\/wp\/v2\/media?parent=816"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}