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HEMOPHILIA
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when he heard reports ofSiberiaRasputin was wandering as a pilgrim inthat Alexei had1904's illness. It was not publicly known inTsarevich Alexei
widespread among European royalty, a disease that washaemophilia-, who was Alexei's greatthe British Queen Victoriadescended from
grandmother. When doctors could not help Alexei, the Tsaritsa looked, toAnna Vyrubovaeverywhere for help, ultimately turning to her best friend,
He was]7[.1905secure the help of the charismatic peasant healer Rasputin inand was indeed able to giveprayersaid to possess the ability to heal through
]7[the boy some relief, in spite of the doctors' prediction that he would die.Every time the boy had an injury which caused him internal or external
bleeding, the Tsaritsa called on Rasputin, and the Tsarevich subsequently gotThis made it appear that Rasputin was effectively healing]citation needed[better.
him.
http://en.wikipedia.org/wiki/Siberiahttp://en.wikipedia.org/wiki/Alexei_Nikolaevich,_Tsarevich_of_Russiahttp://en.wikipedia.org/wiki/Haemophilia_in_European_royaltyhttp://en.wikipedia.org/wiki/Haemophiliahttp://en.wikipedia.org/wiki/Victoria_of_the_United_Kingdomhttp://en.wikipedia.org/wiki/Anna_Vyrubovahttp://en.wikipedia.org/wiki/Prayerhttp://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Prayerhttp://en.wikipedia.org/wiki/Anna_Vyrubovahttp://en.wikipedia.org/wiki/Victoria_of_the_United_Kingdomhttp://en.wikipedia.org/wiki/Haemophiliahttp://en.wikipedia.org/wiki/Haemophilia_in_European_royaltyhttp://en.wikipedia.org/wiki/Alexei_Nikolaevich,_Tsarevich_of_Russiahttp://en.wikipedia.org/wiki/Siberia8/3/2019 CP- Hemophilia 2
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WHAT IS HEMOPHILIA?
Hemophilia is an inherited bleeding disorderin which there is a deficiency or lack of
factor VIII (hemophilia A)or factor IX (hemophilia B)Hemophilia is a lifelong disease,
but with proper management and self-care,most people with Hemophilia can maintainan active, productive lifestyle.
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HEMOPHILIA A
HemophiliaClassicAlso called
Occurs in about 85% of people with Hemophilia.
Results from a deficiency or lack of factor VIII.
Mild Hemophilia: 5% to 25%of the normal factor VIII level Moderate Hemophilia:1% to 5%of the normal factor VIII level
Severe Hemophilia:less than1%of the normal factor VIII level
The greater the deficiency,the more severe the symptoms.
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HEMOPHILIA B
Also called Christmas Disease
occurs in about 15% of people withHemophilia
Results from a deficiency or lack of factor IX, Hemophilia B can be:
mild, moderate, or severe The greater the deficiency,the more severe the symptoms
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Inheritance of Hemophilia
Hemophilia A and B are X-linked recessivedisorders.
Hemophilia is typically expressed in
males and carried by females. Severity level is consistent between family
members.
~30 % of cases of hemophilia are newmutations
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CAUSES OF HEMOPHILIA
The cause of Hemophilia is a deficiency of
Factor VIII for Hemophilia A , Factor IX for Hemophilia B.
Hemophilia is a genetic disease linked to
a defective gene on the X chromosome.A woman who has the defective gene is
called a carrier and usually has no
symptoms.She carries the disease and can pass it on
to her children.
Wh h i i h
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When a woman who is a carrier has a son,the son receives one X chromosome from his mother,
so he has a 50% chance of receiving the defective gene(and a 50% chance of receiving a normal copy of the gene)
Boys who receive the defective gene haveHemophilia.
when a woman who is a carrier has adaughter,
the daughter has a 50% chance of receiving the defective
geneand , therefore, being a carrier.Men who have Hemophilia do not pass the disease
to their sons becauseboys inherit only a Y chromosome from their father.
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Men do pass their X chromosome,and thus a defective gene, to each of their
daughters,
so each of their daughters is a carrier
If the father has Hemophilia
and the mother is a carrier,
, there is a chance the daughter will have
Hemophilia
About 70% of people who have Hemophilia can trace
Hemophilia back throughtheir family for multiple generations
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GENETICS
Affected males All daughters are carriers
No sons are affected
Female carrier
- 50% risk for carrier daughter- 50% risk for affected son
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Laboratory Evaluation of the
Coagulation PathwaysPartial thromboplastin time
(PTT)Prothrombin time
(PT)
Extrinsic pathway
Common pathwayThrombin time
Thrombin
Surface activating agent(Ellagic acid, kaolin)
PhospholipidCalcium
ThromboplastinTissue factor
PhospholipidCalcium
Fibrin clot
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RECOGNIZING HEMOPHILIA
If there is a family history of Hemophilia,specific tests can be done from an umbilical
cord blood sample.
Doctors usually dont see any signs of the condition
at birth.
Symptoms in children may include:
1. Heavy bleeding in a male baby after circumcision.2. Unusual bleeding during teething.
3. Swollen, bruised joints or muscles when learning to walk.
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Degrees of Severity ofHemophilia
Normal factor VIII or IX level = 50-150%
Mild hemophilia:
factor VIII or IX level = 6-50%
Moderate hemophilia:
factor VIII or IX level = 1-5%
Severe hemophilia:
factor VIII or IX level =
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Clinical manifestations(hemophilia A & B)
Hemarthrosis (most common):
Fixed joints.
Soft tissue hematomas (e.g., muscle):
Muscle atrophy.
Other sites of bleeding:
Urinary tract.
CNS, Neck (may be life-threatening).
Prolonged bleeding after surgery.
Dental extractions.
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Clinical Characteristics
Internal bleeding into joints, muscles andmajor organs
Depending on the factor level bleeding canbe spontaneous or caused by trauma
Soft tissue bleeding
Hematomas
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First Bleeding / Diagnosis
Mild
Often has bleeds at an earlier age but notidentified till later in life, 3 to 14 years or older
Moderate
usually before 2 years
Severe
within first year
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Joint or Muscle Bleeding
Symptoms
Tingling or bubbling sensation
Stiffness Warmth
Pain
Unusual limb position
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COMMONCHARACTERISTICS/SYMPTOMS
If clotting factor is slightly to moderately low
,bleeding occurs only after surgery or trauma
If clotting factor is very low,spontaneous bleeding will occur
Spontaneous bleeding may include:
Deep bruises Joint pain and swelling
Internal bleeding
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COMMONCHARACTERISTICS/SYMPTOMS
Unexplained bleeding :
Blood in urine or stool
Prolonged bleeding from:CutsInjuries,
after Surgery
Tooth extractionEpistaxis
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Emergency signs of Hemophilia
Sudden pain, swelling, and warmth
of large joints,
such asknees, elbows, hips and shoulders.
Sudden pain, swelling, and warmthof the muscles
of arms and legs
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Types of Bleeding
Joint bleeding - hemarthrosis
Muscle hemorrhage
Soft tissue
Life threatening-bleeding
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Joint or Muscle Bleeding
Symptoms
Tingling or bubbling sensation
Stiffness Warmth
Pain
Unusual limb position
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Life-Threatening Bleeding
Head / Intracranial Nausea, vomiting, headache, drowsiness,
confusion, visual changes, loss of
consciousness
Neck and Throat Pain, swelling, difficulty breathing/swallowing
Abdominal / GI Pain, tenderness, swelling, blood in the stools
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Other Bleeding Episodes
Mouth bleeding
Nose bleeding
Scrapes and/or minor cuts
Menorrhagia
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Complications of Bleeding
Flexion contractures
Joint arthritis / arthropathy
Chronic pain
Muscle atrophy
Neurologic impairment
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MANAGMENT General hemophilia isnt curable , but treatment
can prevent crippling deformities and prolong lifeexpectancy
General Guidelines Goal 1. Prevent Injury and Possible bleeding
Goal 2. Control Bleeding Episodes
Goal 3. Prevent joint degeneration Goal 4. Encourage self care
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Treatment of Hemophilia
Replacement of missing clotting proteinIntravenous infusion
On demand
Prophylaxis Primary/Secondary
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Factor VIII Concentrate
1. Intravenous infusion
IV push
2. Dose varies depending on type ofbleeding
Ranges from 20-50+ units/kg. body weight
3. Half-life 8-12 hours
4. Each unit infused raises serum factor VIIIlevel by 2 %
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Factor IX Concentrate
Intravenous infusion
IV push
Continuous infusion
Dose varies depending on type of bleeding
Ranges from 20-100+ units/kg. body weight
Half-life 12-24 hours
Each unit infused raises serum factor IXlevel by 1%
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Prevent Injury & Possible Bleeding
Provide safe environment
Use soft bristle toothbrush, NO razors Avoid IM and IV (if so, apply direct
pressure at least 5min)
No Aspirin
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Prevent Injury & Possible Bleeding
Provide safe environment
Use soft bristle toothbrush, NO razors
Avoid IM and IV (if so, apply direct pressureat least 5min)
No Aspirin
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Control Bleeding Episodes
Local measures: apply direct pressure or ice
compress Epistaxis sit up lean forward
Prevent joint degeneration .
Immobilize joint during acute bleeding. Progressive exercise.
Avoid prolong immobility.
Wear Medic Alert ID .
Encourage regular treatment.
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Advanced joint and muscle bleed
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Advanced Joint Bleed
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