Anemia in the pediatric patient
Bleeding, Damage Common In Pediatric Hemophilia Despite Prophylaxis
About a quarter of joints examined had at least 1 joint bleed.
Although prophylaxis is the gold standard of treatment for children with hemophilia, a new report highlights the need to vigilantly monitor patients for signs of "hidden" joint damage.
The ankles are an area of particular concern, according to the authors of a new study published in Thrombosis Research.
Hemophilic arthropathy is the most common complication of hemophilia, wrote the study authors. In many cases, arthropathy leads to disability and diminished quality of life.
Primary prophylactic infusion of coagulation factor is used to prevent joint bleeding and bone damage. However, despite prophylaxis, some patients still develop joint damage, suggesting that subclinical bleeding is relatively common.
"It usually manifests as joint discomfort, which disappears with the new dose of replacement factor," they wrote.
Previous research shows that MRI can detect joint damage in children without a known history of joint bleeding. The problem, the authors said, is that MRI is not routinely used in daily clinical practice.
They wanted to better understand the problem of hidden joint damage in children and to analyze whether certain age groups or certain joints were more prone to damage. They recruited 106 patients with severe hemophilia who were taking prophylaxis and who were between the ages of 2 and 18 years. Eighty-eight percent of the participants had hemophilia A; the rest had hemophilia B. The investigators evaluated the participants' joints and conducted follow-up examinations at their clinic.
Primary prophylaxis is defined as regularly scheduled prophylaxis designed to prevent bleeding. Secondary prophylaxis is administered after a patient has experienced joint bleeding. In the study, 59 participants were on secondary prophylaxis, while 47 participants were taking primary prophylaxis.
Of 636 joints evaluated, about a quarter (163 joints) had at least 1 joint bleed. The most frequent site of joint bleeding was the ankle (48.5%), followed by the elbow (27.6%) and the knee (23.9%).
In terms of joint damage, the investigators found it occurred more frequently in patients on secondary prophylaxis. While just 21.3% of participants on primary prophylaxis had joint damage, 72.9% of participants on secondary prophylaxis had joint damage. Joint damage was defined in the study as having a Hemophilia Early Arthropathy Detection with Ultrasound score of at least 1. On the other hand, the investigators said people on primary prophylaxis had a greater number of damaged joints at older ages. Participants 11 years and older had a greater frequency and degree of arthropathy. They said cartilage was most frequently involved in joint damage, followed by synovitis and bone damage.
The investigators said their study shows that although prophylaxis is the best treatment for children with hemophilia, it does not prevent joint bleeding, symptomatic or otherwise.
"The routine evaluation of joint health is relevant, particularly of the ankle," they concluded.
They added, however, that their research aligns with previous studies suggesting ultrasound is a reliable method by which to detect early signs of arthropathy.
Reference
Daffunchio C, Galatro G, Faurlin V, Neme D, Caviglia H. The hidden joint in children with haemophilia on prophylaxis. Thromb Res. 2023;226:86-92. Doi:10.1016/j.Thromres.2023.04.012
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Bleeding In Joints A Common Symptom Of Haemophilia: Preventing Joint ...
Joint injury (haemophilia arthropathy) is the most common haemophilia consequence. Here's how to prevent the progression of chronic joint disease. Bleeding In Joints A Common Symptom Of Haemophilia: Preventing Joint DegenerationJoint injury (haemophilia arthropathy) is the most common haemophilia consequence. Prophylaxis has been shown to reduce joint bleeding and prevent joint damage. In patients with haemophilia, regular replacement therapy with clotting factor concentrates (prophylaxis), is beneficial in preventing recurrent bleeding episodes in joints and muscles. Despite this progress, intra-articular and intramuscular bleeding continue to be a common clinical symptom of the condition.
Each joint bleed should be treated as soon as possible to avoid chronic joint illness, functional impairment, and disability, as synovium, bone, cartilage, and blood vessel changes all play a role in the development of haemophilic arthropathy.
Joint bleeding tends to repeat if not treated properly, creating a vicious cycle that must be halted to avoid the development of persistent synovitis and degenerative arthritis. Early, vigorous prophylaxis with factor replacement therapies, as well as elective operations such as restorative physical therapy, analgesia, aspiration, synovectomy, and orthopaedic surgery, are all effective ways to avoid and manage haemophilic arthropathy.
Chronic Joint Disease PreventionMany people, particularly the elderly, were not aware of the benefit of using factor replacement medications to treat their bleeding early and effectively. As a result, the majority of people have target joints, and many of them have severe joint disease. Haemophilia arthropathy has a physical and emotional impact on patients, affecting their stride, physical abilities, body image, relationships, masculinity perceptions, feelings of vulnerability, and time away from school and work. Chronic pain is also a symptom of arthropathy. The related impairments and discomfort from joint illness have become significant concerns for many people as this demographic matures.
Primary prophylaxis should be recommendedThe most critical step in lowering the risk of chronic joint disease is to treat bleeding as soon as it occurs. Prior to the appearance of pain, oedema, or restricted motion, treatment must be completed. The goal is to halt the bleeding before the synovium is damaged by blood collection in the joint area.
During the acute period of a bleed, splinting can be used to immobilize the injured joint for a brief time. In addition, crutches or other assistive devices might be utilized to rest an afflicted joint during this time. Patients should be encouraged to resume routine activities gradually.
Muscle atrophy can develop after a haemorrhage causing pain, oedema, and limited motion before activities return to normal. Increased muscle strength, range of motion, and balance are all benefits of physical therapy. The physical therapist can assist in assessing the musculoskeletal system and functional limitations, as well as determining the best therapy options.
Promote a healthy body weightA routine evaluation by a physician, nurse, or physical therapist can help with the physical assessment of joint status. The following items are included in a joint evaluation:
(The article is contributed by Dr Narayan Hulse, Director - Department of Orthopedics, Bone & Joint Surgery, Fortis Hospitals, Bannerghatta Road, Bengaluru)
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Hemophilia: Types, Causes, Symptoms, And Diagnosis - Healthline
Key takeawaysHemophilia is an inherited blood disorder in which your blood does not clot properly. This can cause you to bleed more easily and sometimes lead to excessive bleeding, even from minor cuts or injuries.
There are several types of hemophilia, which are characterized by low levels of certain clotting factors. Healthcare professionals base the overall severity of the condition on the amount of factors present in the blood.
The exact number of people living with hemophilia is not known, but it affects more people assigned male at birth than those assigned female.
According to the Centers for Disease Control and Prevention (CDC), around 33,000 males in the United States have hemophilia.
Keep reading to learn more about the types, symptoms, causes, and treatments of hemophilia.
The symptoms of hemophilia may vary based on the severity of the condition.
In mild cases of hemophilia, you may only experience excessive bleeding after experiencing trauma, such as tooth extraction, vaccinations, surgery, or injury.
Symptoms of mild hemophilia usually only occur after an incident, so doctors may not diagnose it until you reach adulthood. In more severe cases, a doctor may diagnose the condition following a circumcision shortly after birth.
Hemophilia C is generally considered to be a mild form of hemophilia, which means its symptoms and signs align with those of mild cases of A or B.
The primary cause of hemophilia is a mutation in the genes that control and regulate the development of clotting factors. This is called congenital, which means you acquire the trait from one or both of your parents at birth.
About two-thirds of type A and B cases of hemophilia occur in people with a family history of the condition.
It's also possible to develop acquired hemophilia with no personal or family history of hemophilia. This is known as acquired hemophilia, which is a rare autoimmune disorder.
An autoimmune disorder occurs when your immune system attacks healthy cells. In acquired hemophilia, the immune system creates antibodies that attack the clotting factors, most frequently factor 8 (acquired hemophilia A).
Genetics play a role in all three types of hemophilia.
Both hemophilia A and hemophilia B involve a recessive mutation on the X chromosome. Biological males typically have an X and Y chromosome, while biological females typically have two X chromosomes.
This means biological females are less likely to inherit hemophilia since they almost always have at least one non-mutated X chromosome. Instead, they can become carriers if they acquire one copy of the mutated X chromosome.
Being a carrier means that the person will not show any signs or symptoms of the condition, but they can still pass it on to their children. For example, biological males can inherit hemophilia if their mother is a carrier and they get the mutated X gene from them.
Hemophilia C is an autosomal inherited form of the disease. It affects biological males and females equally because the genetic defect that causes this type of hemophilia isn't related to sex chromosomes.
In the United States, hemophilia C affects about 1 in 100,000 people.
Hemophilia is a condition that's typically passed from parent to child. When someone is pregnant, there's no way of knowing whether the baby has the condition.
However, if your eggs are fertilized in a clinic using in vitro fertilization, they can be tested for the condition. Then, only the eggs without hemophilia can be implanted.
If you're worried your baby may develop hemophilia, preconception and prenatal counseling could help you understand your risk of passing hemophilia on to your baby.
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