Anemia in the pediatric patient
What To Know About Acquired Von Willebrand Disease (AvWD)
AvWD is a rare type of bleeding disorder where blood does not clot correctly. It typically develops alongside other health conditions that affect the heart, immune system, or blood cells.
Von Willebrand disease (vWD) describes a type of blood disorder that slows the clotting process. This can lead to excess and spontaneous bleeding.
There are several types of vWD. The three main types of vWD are all hereditary. This means that a person is born with the condition and typically inherits it from their parents.
Acquired von Willebrand disease (AvWD) is another type of vWD. This type is much rarer and is not a condition that a person inherits. Instead, AvWD typically develops in association with other health conditions that affect the heart, blood cells, or immune system.
In this article, we will discuss the symptoms, causes, treatment, and outlook of AvWD, and the difference between this condition and hereditary vWD.
There are proteins in the blood known as von Willebrand factor proteins, which help the blood clotting process.
When a person has AvWD, they may not have enough von Willebrand factor in the blood or the proteins may not work correctly. This slows down the clotting process, resulting in blood clots not forming correctly. This can lead to sudden and prolonged bleeding.
There is currently no definitive cure for AvWD. However, it is not typically a life threatening condition. A doctor will typically focus on controlling and preventing bleeding and treating any underlying health conditions.
There are several types of vWD. All types of vWD occur when the body cannot produce enough von Willebrand factor, or what the body does produce is not effective. Von Willebrand factor is a type of protein in the blood that helps the blood to clot.
Therefore, when a person has vWD, the blood does not clot correctly, which can lead to spontaneous and excess bleeding.
The three most common types of vWD are hereditary. This means they run in families and a person is typically born with the condition. Hereditary vWD affects approximately 1 in 100 people in the United States.
AvWD is a much rarer form of vWD. AvWD does not run in families. It typically occurs later in life when a person has another underlying health condition that affects the immune system, blood cells, or heart.
A person with hereditary vWD may pass it on to their children. However, it is not possible for a person to pass AvWD to their children.
One of the most common risk factors for developing AvWD is if a person has an underlying condition that affects the blood, heart, or immune system.
Research suggests that approximately 30–40% of people with AvWD also have an immune system disorder.
A 2015 retrospective analysis suggests that there is approximately a 12–20% chance of people with AvWD also having blood cancer, such as essential thrombocythemia.
AvWD typically develops once a person reaches adulthood, therefore age may also be a risk factor.
To diagnose AvWD, a doctor may first perform a physical examination to check for bruising and any recent cuts. They may take a full family history to determine whether a person may have inherited vWD.
A doctor may then take blood samples to test how the blood clots. The tests can determine if von Willebrand factor proteins are present in the blood and if they are working correctly.
If a person is presenting symptoms of vWD, does not have any family history of the condition, and has an underlying condition that affects the immune system, heart, or blood, a doctor may diagnose AvWD.
AvWD typically presents mild to moderate symptoms. However, the symptoms may become severe, particularly if they arise following surgery.
The outlook for a person with AvWD may change depending on the severity of the associated underlying condition.
Research suggests that cancer is a common underlying cause of AvWD, and there may be a connection between vWD and the spreading of cancer to different areas of the body. Therefore, if a person with AvWD also has cancer and it spreads to other parts of the body, the outlook may change.
Acquired von Willebrand disease (AvWD) is a rare bleeding disorder that prevents the blood from clotting correctly. This can lead to spontaneous and excessive bleeding.
The most common causes of AvWD are underlying conditions that affect the immune system, heart, and blood. A person cannot inherit AvWD.
There is currently no cure for AvWD. A doctor will typically focus on managing symptoms and treating any underlying conditions.
What To Know About Acquired Hemophilia
Acquired hemophilia refers to a condition someone develops later in life that affects their blood clotting ability. This can lead to spontaneous bleeding, particularly after an injury or during surgery.
Hemophilia is a bleeding disorder that prevents the blood from clotting correctly. This can cause a person to bleed spontaneously for prolonged periods. Excess bleeding may also occur during surgery or following trauma to an area of the body.
Acquired hemophilia is an autoimmune condition. It can develop due to the body producing antibodies that prevent the blood from clotting correctly.
In this article, we will discuss acquired hemophilia, how it differs from hereditary hemophilia, symptoms, causes, treatment, and more.
Acquired hemophilia describes an uncommon blood disorder and autoimmune condition that can lead to excessive internal and external bleeding. This is due to the body being unable to form blood clots correctly. This can occur spontaneously or following surgery or an injury.
An autoimmune condition is when the body produces antibodies that mistakenly attack healthy cells in the body. Acquired hemophilia occurs when the body produces antibodies that attack proteins, or coagulation factors, in the blood that help clots form.
This results in the blood no longer clotting properly. This can lead to excessive bleeding, which can present in the form of:
A person with hemophilia will typically have low levels of blood clotting factors, such as factor VIII or factor IX, in the blood. Low levels of these proteins may prevent blood clots from forming, which can lead to spontaneous bleeding.
Hereditary hemophilia is when a person inherits alterations of the genes responsible for producing these blood clotting factors. These gene variations do not typically produce enough blood clotting proteins to form blood clots. Some types of hereditary hemophilia include:
Acquired hemophilia can occur when the body produces antibodies that attack the blood-clotting proteins. Therefore, the body does not produce enough protein to form blood clots.
Hereditary hemophilia is more likely to affect males than females due to the type of chromosomes a male person is born with. Evidence suggests that hereditary hemophilia affects approximately 20,000–33,000 men in the United States.
A person with hereditary hemophilia is typically born with the condition. However, acquired hemophilia usually develops as a person gets older. A 2022 article refers to a study from 2015, which suggests that 80% of people with acquired hemophilia are over the age of 80 years.
Acquired hemophilia is less common than hereditary hemophilia and can be more difficult to diagnose.
To diagnose acquired hemophilia, a doctor may take a full medical history and perform a physical examination.
If symptoms of acquired hemophilia, such as bruising, are present, a doctor may take a blood sample to test if the blood is clotting correctly.
Further laboratory tests can determine if a person has issues with their blood clotting proteins and if the antibodies attacking those proteins are present. If this is the case, a doctor may confirm a diagnosis of acquired hemophilia.
Acquired hemophilia is a serious condition. Approximately 70% of people with acquired hemophilia may experience severe bleeding.
Research suggests that acquired hemophilia can lead to fatality in approximately 8%–22% of people with the condition. However, these survival rates may increase if a person is receiving anti-hemorrhagic treatments.
Survival rate may decrease if a person does not receive appropriate treatment, receives a late diagnosis, or experiences severe bleeding during a surgical procedure.
Acquired hemophilia is a rare bleeding disorder and autoimmune condition that can cause spontaneous bleeding. This is due to antibodies mistakenly attacking certain proteins in the body that stop the blood from clotting correctly.
When the blood does not clot correctly, it can lead to sudden and prolonged internal and external bleeding, such as nose bleeds, bruising under the skin, and bleeding in various organs. A person with acquired hemophilia may also experience severe bleeding following an injury or during a surgical procedure.
Hereditary hemophilia can occur when a person inherits certain gene alterations from their parents. Acquired hemophilia can occur when a health condition causes the body to produce certain antibodies that attack clotting factors.
Top 5 Most-Read Articles On Rare Blood Disorders In 2024
Key findings from 2024 focused on conditions like vaccine-induced immune thrombotic thrombocytopenia, immune thrombocytopenia, and hemophilia, stressing the importance of early detection and innovative therapies.
As research into rare blood disorders advances, 2024 has seen research illuminate the challenges and breakthroughs in diagnosis and treatment. Key findings focused on conditions like vaccine-induced immune thrombotic thrombocytopenia (VITT), immune thrombocytopenia (ITP), and hemophilia, stressing the importance of early detection and innovative therapies. Additionally, disparities in health outcomes for populations such as those with sickle cell disease (SCD) have come to the forefront.
The top 5 most-read articles related to rare blood disorders in 2024.
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Read more about 2024's top 5 most-read articles related to rare blood disorders.
5. Managing Rare Thrombotic Events Following COVID-19 Vaccination
This year, research has highlighted the importance of early identification and treatment of rare hematologic events, such as VITT and ITP, following COVID-19 vaccination. Investigators reviewed 9 cases of new-onset thrombocytopenia occurring 4 to 42 days post vaccination with Pfizer-BioNTech, Moderna, or AstraZeneca vaccines. Findings exhibited the role of diagnostic tests for heparin-induced thrombocytopenia (HIT) like HIT serotonin release assay in confirming VITT. They outlined treatment approaches, including corticosteroids, nonheparin anticoagulation, and intravenous immunoglobulin. Long-term outcomes varied, with some patients requiring prolonged hospitalization and complex interventions. Most patients continued with subsequent mRNA vaccinations, although the study acknowledged the need for more research into the ongoing management of VITT and ITP, particularly in refractory cases.
Read the full article.
4. Myeloid Panel Analysis Imperative for Risk Assessment in Patients With CCUS
Mutational analysis for patients with clonal cytopenia of undetermined significance (CCUS) who have undergone bone marrow examinations was supported by data from the Lancet Haematology. Findings suggested that identifying mutation profiles and high-risk mutations can better predict disease progression and enable earlier interventions. Researchers conducted a prospective study of over 2000 patients, revealing that 41.1% carried somatic mutations. Patients with CCUS were found to have distinct genetic mutations, such as TET2 and SRSF2, while mutations like SF3B1 and ASXL1 were more common in those progressing to myelodysplastic syndrome. The number of mutations can significantly predict progression to myeloid malignancies, with certain mutations, including TP53 and ASXL1, linked to worse survival outcomes, supporting the need for early detection and expanded genetic panels to optimize patient management.
Read the full article.
3. FDA Approves Marstacimab, First Weekly Sub-Q Option for Hemophilia B
In October, the first subcutaneous therapy for hemophilia B was approved by the FDA, offering a significant advancement in bleeding prevention for patients with hemophilia A or B without inhibitors. Marstacimab (Hympavzi) reduces the treatment burden of frequent intravenous infusions via weekly administration with its autoinjected pen. The therapy effectively decreased annualized bleeding rates by 35% compared with routine prophylaxis and 92% compared with on-demand treatment, based on phase 3 BASIS trial results. Developed by Pfizer, marstacimab targets the tissue factor pathway inhibitor to improve clotting and is priced at $795,600 annually, comparable to other hemophilia therapies. Experts and advocacy groups have praised the therapy for its potential to enhance quality of life.
Read the full article.
2. Immunosuppressive Therapies Shown to Significantly Impact Remission in Acquired Hemophilia A
Immunosuppressive therapies (ISTs) demonstrated efficacy in achieving complete remission (CR) in patients with acquired hemophilia A (AHA), a rare bleeding disorder caused by neutralizing antibodies against factor VIII (FVIII). The investigation, involving 165 patients, revealed that IST, particularly rituximab-based regimens, achieved CR rates up to 93.3%, with bleeding controlled in over 80% of cases using hemostatic therapies like prothrombin complex concentrate or recombinant activated FVII. However, higher FVIII inhibitor titers (≥ 15 BU/mL) and bleeding scores of 6 or more were linked to poorer IST responses, emphasizing their prognostic value. Despite AHA's rarity and diagnostic challenges, the findings exhibit the potential of IST in managing AHA and call for larger, multicenter studies to refine treatment approaches and improve outcomes.
Read the full article.
1. COVID-19 Vaccination Rates Far Lower in Patients With SCD Compared With General Population
COVID-19 vaccination completion rates among patients with SCD were found to be significantly lower than those without SCD, with only 33.5% of SCD patients completing their vaccinations compared with over 61% of the general population. The research findings exhibit the increased vulnerability to severe infections of patients with SCD due to the disease's effects on the immune system, particularly concerning the spleen's function. Researchers analyzed data from the Michigan Care Improvement Registry and the Michigan Sickle Cell Data Collection program, identifying a total of 3424 individuals with SCD. The vaccination rates increased with age for both groups, and significant age-related differences in immunization completion were noted. The study stated the need for further research to understand vaccination perspectives among this population and to develop strategies to improve their vaccination rates to reduce COVID-19–related morbidity and mortality.
Read the full article.
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