Hemophilia and Normal Hemostasis

Hemophilia

• Hemophilia is an X-linked congenital bleeding disorder
• Caused by deficiency of coagulation factor VIII (in hemophilia A) or factor IX (in hemophilia B)
• People with hemophilia have lower clotting factor levels or impaired activity of coagulation factors needed for normal clotting
• Hemorrhages occur frequently in joint cavities, but also in muscles and mucous membranes (mouth, gums, nose) and central nervous system
• Central nervous system hemorrhages are uncommon, but a major cause of death in hemophilia patients
• Hemophilia A is the most common type (85% of cases), caused by a deficiency of factor VIII
• Hemophilia B is caused by deficiency of factor IX
• Hemophilia C (rare type) is caused by a deficiency of factor XI

Normal Hemostasis

• In normal hemostasis, blood cells and substances form clots, stopping bleeding
• Clotting factors are proteins produced by cells lining blood vessel walls
• Key components include platelets, vitamin K, and fibrinogen
• Platelets are blood cells produced in bone marrow, essential for blood clot formation

Blood Clotting Factors

• Factor I - fibrinogen
• Factor II - prothrombin
• Factor III - tissue thromboplastin (tissue factor)
• Factor IV - ionized calcium (Ca++)
• Factor V - labile factor or proaccelerin
• Factor VI - unassigned
• Factor VII - stable factor or proconvertin
• Factor VIII - antihemophilic factor
• Factor IX - plasma thromboplastin component, Christmas factor
• Factor X - Stuart-Prower factor
• Factor XI - plasma thromboplastin antecedent
• Factor XII - Hageman factor
• Factor XIII - fibrin-stabilizing factor

Types of Hemophilia

• Hemophilia A is the most common type, with a deficiency of factor VIII
• Hemophilia B is caused by a deficiency in factor IX
• Hemophilia C is a rare, milder form of the condition, and presents with a factor XI deficiency

Hemophilia and Genetics

• Hemophilia is an inherited genetic condition
• Caused by a defect in the gene that determines how the body produces factors VIII, IX, or XI
• The gene is located on the X chromosome, making it an X-linked recessive disorder
• The condition is passed down genetically

Clinical Classification of Hemophilia

• Hemophilia is classified as mild, moderate, or severe based on the degree of clotting factor deficiency
• This classification is compared to the general population's levels and the bleeding stimulations

Mild Hemophilia

• Predisposition to bleeding with injury
• Haemoarthrosis (bleeding into joints) is rare
• Factor level is greater than 5-40% of normal

Moderate Hemophilia

• Predisposition to bleeding with slight injury
• Haemoarthrosis occurs sometimes
• Factor level is 1-5% of normal

Severe Hemophilia

• Predisposition to spontaneous bleeding with little or no trauma
• Haemoarthrosis is very frequent
• Factor level is less than 1% of normal

Clinical Manifestation of Hemophilia

• The most common manifestation is hemarthrosis (bleeding into joints), with ankles, knees, and elbows commonly affected
• Shoulders, wrists, and hips may also be affected

Initial Signs of Hemophilia

• Persistent bleeding after circumcision, other surgeries, or blood tests
• Unexplainable recurrent bruises
• Hesitation to use a limb
• Bleeding from cuts and scratches that takes a long time to stop
• Swelling of a joint after injections (e.g., immunizations)
• Frequent nosebleeds

Joint Bleeds (Hemarthroses)

• Spontaneous or trauma-induced joint bleeds
• Main causes of chronic pain and disability in severe hemophilia

Symptoms of Joint Bleeds

• Symptoms may not be apparent immediately
• Chronic bleeding breaks down the joint lining (synovium), causing damage
• Leads to hemophilic arthropathy (painful arthritic condition)

Soft Tissue Bleeding

• Bleeding in muscles (hematomas)
• Iliopsoas, quadriceps, gastrocnemius-soleus, and forearm muscles are commonly affected
• Bleeding into muscles can cause severe problems, including compartment syndrome
• Bleeding into joints, soft tissues, and muscles is more common after age two

Psychological Disturbance

• Children with hemophilia may feel different and isolated
• Daily fluctuations in disease symptoms may affect mood and coping abilities

Growth Abnormalities

• Recurrent bleeds into the same joint of a growing child can lead to growth abnormalities
• Epiphyses (bone growth plates) are open in children, making them susceptible to growth abnormalities
• Bleed into a joint causes hyperemia, which stimulates growth

Lower Bone Mineral Density

• Hemophilia can result in lower peak bone mass and bone mineral density (BMD)
• This is often due to avoidance of weight-bearing physical activity during childhood and adolescence

Proprioception

• Proprioception is impaired in people with hemophilia
• Static proprioceptive performance (measured through single limb stance) is significantly decreased in patients with severe hemophilia compared to healthy subjects

Signs in Young Children with Hemophilia

• Irritability
• Crying
• Favoring a limb
• Refusing to walk
• Limited movement (mobility) of the joint
• Refusing to straighten, weight bear, or use the limb

Assessment of Hemophilia

• Examination should include historical information about bleeding frequency and location, and the patient's normal activities
• Essential for identifying causative factors and designing a program to reduce hemorrhage frequency and severity

Assessment Includes

• Muscle tests
• Leg length measurement
• Girth measurement (joints and muscles)
• Gait assessment
• Pain assessment
• Palpation
• Balance and coordination assessment
• Gross motor development

Management of Hemophilia

• I. Medical management includes intravenous factor replacement (either on demand or prophylactically)
• II. Physical therapy treatment focuses on maintaining strength and range of motion (ROM) in all joints, and preventing or diminishing disability

Physical Therapy of Acute Haemarthrosis (PRICE)

• Protection
• Rest (bed rest for 1 day)
• Ice (20 minutes, every 4-6 hours)
• Compression (splints, slings, bandages)
• Elevation (3-4 days)

Treatment Stage Includes

• TENS (transcutaneous electrical nerve stimulation)
• Movement in pain-free ranges
• Hydrotherapy

Subacute Phase Management (after 48 hours)

• Modalities (ice, TENS, splints)
• Progressive movement and exercises
• Progressive weight bearing (within range of motion)
• Proprioceptive exercises
• Hydrotherapy (gait training)

Basic Elements of Physiotherapy Exercises Program in Hemophilia

• Strength training (isometric, isotonic, isokinetic) with progressive resistance
• Flexibility exercises (static, dynamic, PNF)
• Balance and proprioceptive training (starting with stable surfaces and progressing to unstable ones)

This quiz explores the concepts of hemophilia, an X-linked bleeding disorder, and the process of normal hemostasis. Delve into the causes, types, and effects of hemophilia, alongside understanding the essential mechanisms involved in clot formation and maintenance. Enhance your knowledge of clotting factors and their significance in cardiovascular health.