Fact-sheet: Hemophilia
Updated on 02/07/2018 at 1:37 PM
View all RADEOS cases associated with this fact-sheet
Definition
X-linked recessive genetic disorder resulting in a coagulation factor deficiency:
- factor VIII: hemophilia A
- factor IX: hemophilia B
Clinical features
Repeated, spontaneous, prolonged bleeding episodes, which may be severe:
- gastrointestinal bleeding
- urinary tract bleeding
- intraoperative bleeding
- retroperitoneal bleeding
- intracerebral bleeding
- musculoskeletal bleeding. Hemarthroses are common: Knee (45%), Elbow (30%), ankles (15%), hips, shoulders
Laboratory findings
Platelet count, bleeding time, prothrombin time: normal
aPTT: prolonged
Coagulation factor assay: diagnosis & severity
Radiography
- Dense intra-articular effusion
- Periarticular osteopenia
- Epiphyseal overgrowth in children
- Well-defined erosions at synovial reflection sites initially, then extending
- Irregularity of the subchondral bone plate
- Diffuse joint space narrowing
- Growth arrest lines
Ultrasound
Early detection of intra-articular effusion, which may be echogenic
Synovial thickening and hyperemia
Blurred and irregular cartilage
MRI
The most sensitive examination.
See Soler classification below
Classification
Soler classification
- Grade 0: normal MRI
- Grade 1: mild synovial hypertrophy with hemosiderin deposits in the synovial recesses
- Grade 2: same as above + diffuse hemosiderin deposits and isolated cartilage erosions
- Grade 3: diffuse cartilage destruction, joint space narrowing, erosions
- Grade 4: severe arthropathy, secondary osteoarthritis or ankylosis