Quick Review
A 2 year old boy is brought to the clinic because of a swollen painful knee after injury during play or a fall. On exam the knee is very swollen, there is limited range of motion, and there is ecchymoses and swelling around the areas of the leg that were injured (e.g. thigh, shin, hip). There may be a family history of a male relative dying of a deep brain bleed or a male relative with similar problems with joint swelling, easy bruising or delayed bleeding after dental procedure (e.g. tooth extraction). Only male family members are affected (x-linked recessive). Physical exam will show limited mobility and pain on movement. X-ray of the joint will show a large effusion (hemarthrosis). CBC will be normal. Coagulation studies will show elevated aPTT, and either reduced factor VIII (hemophilia A) or factor IX (hemophilia B) activity. Treatment is to replace the missing coagulation factor. Desmopressin may be given for mild hemophilia A.
Years later the boy has injured the same knee multiple times and now the pain and swelling have become worse and he still has poor range of motion in the knee. X-ray now reveals joint destruction and an MRI more clearly shows destruction of the cartilage and bone in the knee joint.
Additional Notes
Hematomas and ecchymoses are often seen in areas injured as bleeding can occur within skeletal muscle and bruising of the skin is worse than normal.
Hemarthrosis is bleeding in the joint. If the boy injures the same knee multiple times, the repeated bleeding can lead to chronic hemophilic arthropathy. RBCs in joint --> hemosiderin --> inflammation --> fibrosis --> joint damage (bone, cartilage). Physically, the joint is more painful and more swollen and there is still limited mobility. MRI shows the degree of destruction and can detect early damage.
Relevant Images
A 2 year old boy is brought to the clinic because of a swollen painful knee after injury during play or a fall. On exam the knee is very swollen, there is limited range of motion, and there is ecchymoses and swelling around the areas of the leg that were injured (e.g. thigh, shin, hip). There may be a family history of a male relative dying of a deep brain bleed or a male relative with similar problems with joint swelling, easy bruising or delayed bleeding after dental procedure (e.g. tooth extraction). Only male family members are affected (x-linked recessive). Physical exam will show limited mobility and pain on movement. X-ray of the joint will show a large effusion (hemarthrosis). CBC will be normal. Coagulation studies will show elevated aPTT, and either reduced factor VIII (hemophilia A) or factor IX (hemophilia B) activity. Treatment is to replace the missing coagulation factor. Desmopressin may be given for mild hemophilia A.
Years later the boy has injured the same knee multiple times and now the pain and swelling have become worse and he still has poor range of motion in the knee. X-ray now reveals joint destruction and an MRI more clearly shows destruction of the cartilage and bone in the knee joint.
Additional Notes
Hematomas and ecchymoses are often seen in areas injured as bleeding can occur within skeletal muscle and bruising of the skin is worse than normal.
Hemarthrosis is bleeding in the joint. If the boy injures the same knee multiple times, the repeated bleeding can lead to chronic hemophilic arthropathy. RBCs in joint --> hemosiderin --> inflammation --> fibrosis --> joint damage (bone, cartilage). Physically, the joint is more painful and more swollen and there is still limited mobility. MRI shows the degree of destruction and can detect early damage.
Relevant Images
X-ray vs MRI appearance of hemophilic arthropathy - see here, classifying severity using MRI,
Swollen knee - here
Comments
Post a Comment