Pay attention to hemophilia, and everyone can enjoy recovery

There are some people around us who may bleed profusely after a minor injury, and some even have spontaneous bleeding. If the bleeding occurs in the retroperitoneum or intracranial space, it may be life-threatening. This special group is hemophiliacs, and we also call them "glass people".

What is hemophilia

Hemophilia is an X-linked recessive inherited bleeding disorder that occurs in males and is carried by females. It is rare for females to develop the disease.

There are two types of hemophilia: hemophilia A and hemophilia B. Hemophilia A is a deficiency of clotting factor VIII (FVIII), which occurs in about 85% of hemophiliacs, while hemophilia B is a deficiency of clotting factor IX (FIX), which occurs in about 15% of hemophiliacs. Studies have found that hemophilia A is often more severe than hemophilia B.

Common clinical symptoms of hemophilia

Bleeding is the most common clinical manifestation.

The patient may experience spontaneous bleeding in various parts of the body or continuous bleeding after injury, among which joint bleeding accounts for 70%-80%, and is most common in the knees, elbows, and ankles; muscle and soft tissue bleeding accounts for 10%-20%, with local pain, swelling, and high skin temperature; skin and mucous membrane bleeding accounts for 5%-10%, such as bleeding from the mouth and nose; and hematuria accounts for 2%-5% of the bleeding.

Repeated joint bleeding in patients can lead to joint deformity, pain, and difficulty walking.

How is hemophilia diagnosed?

1. Screening test: Platelet count is normal; bleeding time and prothrombin time are normal, and activated partial thromboplastin time (APTT) is prolonged.

2. Confirmatory test: Hemophilia A and hemophilia B can be diagnosed respectively by measuring the activity of coagulation factor VIII and coagulation factor IX, supplemented by the measurement of coagulation factor VIII and coagulation factor IX antigens.

3. Genetic diagnosis: This method is mainly used for hemophilia gene carriers and prenatal diagnosis. The commonly used method is to extract DNA from peripheral blood and amniotic fluid for testing. It has low risk and high accuracy and has been widely used in recent years.

Treatment of hemophilia

Treatment principles: Currently, hemophilia cannot be cured, and replacement therapy is the main method of treating hemophilia. In case of acute bleeding, patients should go to a nearby professional medical institution for treatment as soon as possible. Early treatment can reduce pain, functional impairment, and long-term disability, and significantly reduce hospitalization due to complications.

Drug selection for replacement therapy: Genetic recombinant long-acting coagulation factor VIII preparations or virus-inactivated blood-derived coagulation factor VIII concentrate preparations are the first choice for replacement therapy of hemophilia A; genetic recombinant coagulation factor IX preparations or virus-inactivated blood-derived prothrombin complex (aPCC) are the first choice for replacement therapy of hemophilia B. In addition, there are non-factor drug therapy and gene therapy, which are currently in the research and trial stage.

Rehabilitation therapy for hemophilia

Rehabilitation therapy can prevent and alleviate the dysfunction of patients' muscles and joints, and improve their daily activities and quality of life. Before rehabilitation therapy, the patient should first be evaluated, including limb motor function, individual activity ability, and social participation ability.

Emergency treatment of joint and muscle bleeding - use the PRICE principle while controlling bleeding

Protect: Protect the bleeding area immediately to prevent it from getting worse.

Rest: Avoid moving the injured limb and elevate the affected area to rest.

Ice: To reduce pain and bleeding, but because the activity of coagulation factors is related to temperature, it is necessary to pay attention to the skin temperature not being too low and maintain it at around 37°C.

Compression: You can apply pressure to the joint with an elastic bandage or stockings. Gentle pressure helps limit bleeding and protect the joint. Use compression with caution if you suspect nerve damage.

Elevation: Raise the bleeding area higher than the heart. This can reduce the pressure in the blood vessels at the bleeding area and slow down the bleeding.

Once the bleeding stops, rehabilitation treatment should be started as soon as possible to restore motor function under the premise of clinical treatment such as coagulation factors.

Physical factor treatment: cold therapy, transcutaneous electrical nerve stimulation, laser, etc. can be used to reduce exudation, relieve pain, promote the absorption of muscle hematoma and joint effusion, reduce and eliminate synovial inflammation, and maintain muscle morphology and function.

Exercise therapy: In the early stage, isometric contraction training is performed under the guidance of rehabilitation physicians and therapists. According to the condition of the disease, joint range of motion training, muscle strength training, stretching training, etc. are gradually added to maintain joint range of motion and restore muscle strength. At the same time, proprioception training is combined to improve proprioception and balance function. However, the principle of gradual progress must be followed to avoid excessive exercise that may induce bleeding again.

For deformed joints, in addition to conventional physical therapy and exercise therapy, the correct use of orthotics and assistive devices can also reduce functional impairments of hemophilia patients and improve their ability to take care of themselves. In severe cases, artificial joint replacement or arthroplasty can be performed to relieve pain, improve joint function, and improve quality of life.

"Everyone enjoys it - unity and cooperation, policy support, and common development". Let us pay attention to hemophilia patients, work together, optimize services, improve the prevention and treatment of hemophilia, reduce the suffering of patients as much as possible, and improve their quality of life.