CP- Hemophilia 2

8/3/2019 CP- Hemophilia 2

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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/Siberia


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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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Documents

CP- Hemophilia 2