PATHOPHYSIOLOGY
 Hemophilia
 Two inherited disorders — hemophilia A
and hemophilia B (clinically
indistinguishable).
 Distinguished by laboratory tests.
 Hemophilia A - deficient or defective
factor VIII.
 Hemophilia B (also called Christmas
disease) - deficient or defective factor IX.
 Both inherited as X-linked traits (affects
males; females usually carriers).
 Spontaneous mutations possible.
 Occurs in all ethnic groups.
 Severe disease is defined as a plasma
factor activity level of < 1 IU/dL, or < 1%
normal factor VIII levels
 Moderate disease reflects a level of 1 – 5
IU/dL or factor VIII level between 1% and
5% of normal
 Mild disease reflects a level above 5
IU/dL or factor VIII level above 5%
 Recognized in early childhood.
 However, patients with mild hemophilia
may not be diagnosed until they
experience severe trauma (e.g., a high
school football injury) or surgery.
Hemophilia
CLINICAL MANIFESTATION
 Bleeding into various parts of the body
 Patients with a mild factor VIII deficiency
rarely bleed spontaneously except trauma.
 Spontaneous hemorrhages usually in
severe factor VIII deficiency.
 Epistaxis
 Joint bleeding, joint pain with swelling.
 Intramuscular hematomas compress
nerves – numbness, atrophy
 Tendency to bruise easily
 Abnormal bleeding after trauma.
 Platelet function tests are normal, clotting
factors abnormal.
MEDICAL MANAGEMENT
 Recombinant factor VIII and X
concentrates.
 Immunosuppression therapy (e.g.,
cyclophosphamide, IVIG, prednisone) - to
suppress antibodies to factor concentrates
in hemophilia B.
 Recombinant factor VIIa (Novoseven, Novo
Nordixk) or activated prothrombin
complex concentrates.
 Aminocaproic acid inhibits fibrinolysis.
 Desmopressin—induces transient rise in
factor VIII levels (in mild Hemophilia A).
NURSING MANAGEMENT
 Monitor for bleeding and maintain
bleeding precautions.
 Prepare to administer factor VIII
concentrates, either produced through
genetic engineering (recombinant) or
derived from pooled plasma, as
prescribed.
 Monitor for joint pain; immobilize the
affected extremity if joint pain occurs.
 Assess neurological status (child is at risk
for intracranial hemorrhage).
 Monitor urine for hematuria.
 Control joint bleeding by immobilization,
elevation, and application of ice.
 Apply pressure (15 minutes) for
superficial bleeding.
 Instruct the child and parents about the
signs of internal bleeding.
 Instruct parents in how to control the
bleeding.
 Instruct parents regarding activities for
the child, emphasizing the avoidance of
contact sports and the need for
protective devices while learning to walk;
assist in developing an appropriate
exercise plan.
 Instruct the child to wear protective
devices such as helmets and knee and
elbow pads when participating in sports
such as bicycling and skating.
Difference between hemophilia and vWD is that in hemophilia, platelet plug forms but discordant fibrin formation →soluble clots that fails.
Hemophilia is X-linked whereas vWD is not.
NURSING MANAGEMENT contd.
GERONTOLOGICAL CONSIDERATION
 Splints & other orthopedic devices helps
joint or muscle bleeding.
 All injections should be avoided;
 Minimize invasive procedures (e.g.,
endoscopy) or give factor replacement
first.
 Wear medical identification (e.g., MedicAlert bracelets).
 Written emergency plan (what to do in
emergency including names and phone
numbers).
 Heat is avoided because it can
accentuate bleeding.
 HIV and hepatitis C, counseling for
patients prior to 1985
 Genetic testing and counseling should be
provided to female carriers.
 Intracranial hemorrhage is the third most
common cause of death after HIV and
hepatitis.
 Hepatitis B and C infections are very
common in this population.
 Likelihood of acquiring inhibitors,
especially hemophilia A inhibitors, also
increases with age.
 Arthropathy is a major cause of morbidity.
 Pain management can be challenging as
NSAID use is contraindicated.
 Concomitant cardiovascular disease less
likely but interventions challenging when
they occur.
Substances that Impair
Platelet Formation
Miscellaneous
 Antihistamines
 Hepatitis B vaccine
 Phenytoin (Dilantin)
 Vitamin E
 Herbal Supplements
 Feverfew
 Gingko
 Ginseng
 Kava kava
Food and Food Additives
 Caffeine
 Chinese black tree fungus
 Clove
 Cumin
 Ethanol (i.e., alcohol)
 Fish oils
 Garlic
 Ginger
 Onion extract
 Turmeric
 Plasma Expanders
 Antibiotics
 Angiotensin receptor blockers
 Beta-blockers
 Calcium channel blockers
 Diuretics
 SSRIs, SNRIs, TCAs,
 Contrast agents
Difference between hemophilia and vWD is that in hemophilia, platelet plug forms but discordant fibrin formation →soluble clots that fails.
Hemophilia is X-linked whereas vWD is not.