Interviewed experts:
Yang Renchi, Director of Thrombosis Hemostasis Diagnosis and Treatment Center, Chinese Academy of Medical Sciences Hematology Hospital
Wu Runhui, Chief Physician
Guan Tao of Beijing Children's Hospital Affiliated to Capital Medical University, Beijing Children's Hospital of Capital Medical University
Guan Tao, founder of Beijing Hemophilia Home Rare Disease Care Center
Many people are not familiar with or even heard of it. It also has the name "Glass Man" because the patient is very fragile and will bleed unstoppable from trauma or carelessness.
"Blood contains more than ten kinds of coagulation factors. When bleeding occurs, through a series of complex chain reactions, like dominoes pushing one by one, the coagulation function is finally realized. However, patients with hemophilia lack one coagulation factor. The coagulation domino is broken and the coagulation function is blocked, so it is difficult to stop the bleeding." This is the image description of hemophilia in the first "Hemophilia Family Guide" (first edition).
Traumatic bleeding is easier to find. Spontaneous bleeding in joints, muscles, internal organs and deep tissues is often difficult to find, because it reaches a certain amount of bleeding before symptoms occur. This kind of bleeding is precisely the cause of death and disability in hemophilia patients. The root cause, and worse, hemophilia is inherited.
is to increase the public's awareness of the prevention and treatment of hemophilia and promote standardized diagnosis and treatment. Hosted by Beijing Hemophilia Home Rare Disease Care Center and supported by Roche Pharmaceuticals China, Yang Renchi, director of the Thrombosis Hemostasis Diagnosis and Treatment Center of the Hematology Hospital of the Chinese Academy of Medical Sciences, and deputy hematology tumor center of Beijing Children’s Hospital Director Wu Runhui took the lead in joining the first batch of hemophilia care think tanks. At the same time, the "Shu Le Orange City" virtual community, which provides physical and mental assistance to hemophilia and their families, was also launched simultaneously.
Heredity: If you have a family history, prenatal intervention should be carried out in advance.
"Haemophilia is a genetic disease. If parents with a family history decide to have a child, they must undergo prenatal screening. Once the child is born, hemorrhage-like symptoms will not stop. , It is necessary to highly suspect hemophilia." Yang Renchi said that the heredity of hemophilia is more complicated, and it may not all occur.
If the father is a patient with hemophilia and the mother is normal, the children born to boys are generally normal, and the girl is a carrier of hemophilia.
If the father is a patient with hemophilia and the mother is a carrier, there is a 50% chance that the child born to the boy will be a hemophiliac; the girl is either a carrier or a hemophiliac.
If the father is normal and the mother is a carrier, the children born to boys have a 50% chance of being a hemophiliac; the girls born to a boy are 50% likely to be carriers.
Therefore, families with hemophilia who have family planning should consult a doctor in advance to take precautions.
Symptoms: There are various manifestations of different bleeding sites. Parents should pay attention to
hemophilia patients. Because of the different bleeding sites, their symptoms are diverse. For example, some muscle and joint bleeding can cause joint damage, which is manifested as joint pain; some are repeated gum bleeding. Nosebleeds; others are manifested as hematuria, severe intracranial hemorrhage, abdominal bleeding is life-threatening.
needs to be reminded that the first bleeding of many patients is before the age of 3, parents should pay attention to certain "abnormal" performances of their children, such as reluctance to use a certain limb, or the child shouts pain when touching a limb. Do not allow contact, go to the hospital as soon as possible to find out the cause. In addition, children often have nosebleeds for no reason, or bumps on the body cause blood stasis for a long time, and often have patches of bruises and bruises. Parents should not disagree. This may be an early manifestation of hemophilia, especially if there is a family history of hemophilia. Parents of affected children should be highly vigilant.
Treatment: Childhood is the key, preventive treatment and control of bleeding
There are currently about 136,000 hemophiliacs in my country. Due to inadequate standardized preventive treatment, about 50% of people under the age of 14 have disabilities, and up to 90% of those over 18 ② . Guan Tao, the psychological director of the Rare Disease Care Center of Beijing Hemophilia Home, pointed out that due to the relatively insufficient social awareness of hemophilia, the low availability of medicines, and the limitations of existing treatment methods, the burden of disease facing hemophilia families is health. 5 times as much as for families with children③.
"Childhood is the key to the treatment of hemophilia." Professor Wu Runhui said that the younger you start preventive treatment, the better the effect. Early adoption of standardized preventive treatment when a child is young can prevent complications such as disability and live like a normal person.
preventive treatment means that there is no bleedingUnder circumstances, regular injections of coagulation factors are just like long-term antihypertensive drugs for hypertensive patients to reduce the risk of cardiovascular disease. However, coagulation factors need to be injected for life. About 10%-30% of patients will produce coagulation factor VIII inhibitor 2 after treatment, which becomes a new difficulty in treatment.
“For patients with hemophilia A who produce inhibitors, there is an urgent need for more effective preventive treatments to control bleeding.” Professor Wu Runhui pointed out that the first non-factor therapy drug, iimerizumab, is a blood compound with inhibitors. The effective control of bleeding brings new treatment options to the friendly patients. Clinical studies have shown that in children under 12 years of age, patients who receive emeicilizumab are treated with preventive treatment once a week for 58 weeks. The zero-treatment bleeding rate reaches 77%, which can significantly reduce the number of annual bleeding and stop more than 99% of target joints. Frequent bleeding avoids joint disease and disability.
At the same time, the method of administration of Immexizumab by injection once a week is revolutionary in Professor Yang Renchi's view, especially for children. Because in the past, whether it was once a day or every other day, the child was very painful and difficult to persist. Now the once-a-week dosing method not only improves compliance, but also makes preventive treatment stable.
"The drugs covered by our current medical insurance are all treatment drugs for patients with hemophilia A and B antibodies after bleeding, but there is no preventive treatment. What follows is that the quality of life of these antibody-producing patients is very Bad. We have seen many, many patients, so we can’t avoid disability, and can only endure the torture of this kind of pain in bed for a long time every day.” Mr. Guan Tao said, “Preventive drugs like eimerizumab It is very important for Chinese patients. I hope that these drugs can be included in medical insurance as soon as possible in the future, so that more hemophiles can use and afford it."
protection: joint bleeding after exercise, remember a PRICE method
brake ( Prohibition): Limit bleeding limbs. If joint bleeding, it can be fixed with splint or plaster. The fixed time is generally not more than 3 days.
Rest (Rest) : If there is a sprain, muscle strain, knee joint injury, stop activities immediately, and rest the affected limb as much as possible for 12-24 hours or longer.
Cold compress (Ice) : immediately apply ice to the bleeding area for 15-20 minutes, then take off the ice and rest for 5 minutes before applying, repeat 3-4 times. The ice should not be in direct contact with the skin and can be wrapped in cloth Get up or put on a bandage.
Compression (Compression) : Use an elastic bandage to pressurize the bleeding area, not too tight, and the area of the bandage should be larger than the injured area. Joint bleeding is to fix the joints to avoid more serious bleeding caused by joint activities.
Elevation : Elevate the wound higher than the height of the patient's heart. If a fracture is suspected, fix the wound with a splint before raising it. What
needs to remind is that the PRICE method only reduces the amount of bleeding within a certain period of time to relieve the symptoms in the later stage, and cannot stop the injection of clotting factors.
In fact, the treatment of hemophilia is a long process. It not only requires treatment methods and goals, but also provides guidance on daily diet, exercise, and daily life. The "Guide to Hemophilia Families" provides an overview of hemophilia, diet The vivid interpretation of five chapters: exercise, daily care, and psychology, provides comprehensive help for patients and families. As long as the patient cares and the family wants to know, the answer can be found here.
At the same time, Zhou Hong, President of Roche Pharmaceuticals China, said that Roche has always been committed to promoting the improvement of the overall level of diagnosis and treatment of hemophilia, and accelerating the availability of innovative treatment programs in China. At the same time, adhering to the concept of meeting the needs of the first patients, we will continue to support the development of the Chinese hemophilia community and spare no effort to protect the physical and mental health of children with hemophilia during the critical period of growth.
References in this article:
① The Prevalence of Hemophilia in Mainland China: a systematic review and meta-analysis, Southeast Asian J Trop Med Public Health. 2014 Mar;45(2):455-66
② PEYVANDI F, GARAGIOLA I, YOUNG G. The Past and Future of Haemophilia: Diagnosis, Treatments, and Its Complications [J]. Lancet, 2016, 388(140): 187-197
③ Tang Ling , Zhang Jishui, Wu Runhui. Evaluation of subjective quality of life and family burden in children with hemophilia with moderate and severe joint disease[J]. Thrombosis and Hemostasis, 2014, 20(1):8-12.
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