Hemophilia is an inherited clotting factor deficiency disease. It is inherited from women who carry the hemophilia gene and affects up to half of their boys. Intra-articular hemorrhage is the most common form of hemophilia and is most common in the knee joint, accounting for about 2/3 of all cases. repeated intra-articular bleeding leads to degenerative joint degeneration called hemophilic arthritis.
1. Etiological typing
Type A (factor VIII deficiency), type B (factor IX deficiency) and type C (factor XI deficiency) are classified according to the deficient factor.
Types A and B are X-chromosome recessive, with only males and females as carriers, and have a pronounced tendency to bone and joint hemorrhage.
Type C is autosomal dominant and can develop in both sexes. This type is rare, with mild bleeding and rare bone and joint involvement.
2. Pathology
In the early stages of hemophilic arthritis, there is only intra-articular bleeding, which is slowly absorbed after rest. After repeated bleeding again, the synovial membrane becomes brown or reddish-brown due to the gradual deposition of iron-containing hemoglobin, followed by villi proliferation and loss of luster on the cartilage surface. Finally, it leads to degenerative changes of articular cartilage and fibrous thickening of synovial membrane.
3.Clinical manifestations
According to the amount of coagulation factor deficiency, the clinical manifestations are classified as severe, moderate and mild. Those with coagulation factor less than 1% of the normal value are considered severe, and intra-articular bleeding can occur about one year after birth, and abnormal bleeding occurs in about 90% of cases before school age; those with coagulation factor within 5% are considered moderate, and sometimes bleed, but less frequently than the former; those with coagulation factor between 5 and 25% are considered mild, and almost no spontaneous bleeding is seen, and abnormal bleeding only occurs during trauma or tooth extraction. As a result, no bleeding factor is noticed in infancy, and only about half of them have a history of unstoppable bleeding until school age. A coagulation factor of 70-100% is considered normal.
Hemophilic arthritis is mainly characterized by recurrent intra-articular bleeding throughout childhood, and in severe cases, intra-articular bleeding is seen at the onset of walking, mainly in the knee, followed by the ankle, elbow, shoulder and hip. The disease is divided into three phases: the first phase is the hemorrhagic phase, with sudden acute intra-articular hemorrhage accompanied by severe pain, significant swelling of the joint, increased local skin temperature, significant pressure pain, limited motion, and protective stiffness of the joint.
Sometimes the body temperature rises and the leukocytes increase, which can be easily misdiagnosed as septic arthritis, or even wrongly performed puncture or incision, causing fatal danger. The hematoma is absorbed slowly, taking about 3-6 weeks. The second phase is the inflammatory phase, which is characterized by recurrent intra-articular bleeding, thickening of the joint capsule and synovial membrane, secondary joint swelling and restricted motion with friction sounds. The third stage is the degenerative stage, in which the joint movement is severely restricted and the muscles atrophy, often with flexion contracture deformity and even severe disability.
4.Diagnosis
(1)Family history of heredity
(2)History of previous bleeding episodes
(3)Clinical manifestations
(4)Prolonged clotting time and other laboratory test results
(5) It should be noted that biopsy should be avoided because it is easy to cause re-bleeding.
5.Prevention and treatment
The child should not participate in strenuous sports and should be prevented from trauma. Active measures should be taken for acute phase joint hematoma to prevent future complications.
The main points are as follows.
(1) Bed rest and elevation of the affected limb.
(2) Apply ice packs and splinting.
(3) Transfusion of fresh blood or component blood to improve anticoagulant substances. For patients with B and C types, transfuse stored whole blood or plasma for two weeks.
(4) Infusion of adrenocorticotropic hormone may reduce the inflammatory response.
(5) Intra-articular injection of hyaluronidase helps in the absorption of hematoma.
For advanced contracture deformity of the joint, continuous skin traction can be mildly performed. If orthopedic surgery is necessary, coagulation factors should be supplemented preoperatively, intraoperatively, and postoperatively.