Upload
hanisha-erica-villaester
View
104
Download
0
Embed Size (px)
Citation preview
HEMOPHILIAHanisha Erica P. Villaester
OVERVIEW
HEALTHY
HEMOPHILIA
OVERVIEW
HISTORY OF HEMOPHILIA
"royal disease“ hemophilia gene was passed from Queen Victoria of England in 1837 to the ruling families of Russia, Spain, and Germany
In 1828, Dr. Schonlein first coined the term “haemorrhaphilia” for the hemorrhagic condition
HEMOPHILIA IN THE ROYAL FAMILY
WHAT IS HEMOPHILIA?
Hemophilia- “love of bleeding” Inherited hemorrhagic disorder caused by deficiency of factor VIII, factor IX or factor XI
X – Linked Recessive Inheritance Affects males only, females act as carriers
***Female who carry a single mutated gene are generally asymptomatic
COAGULATION CASCADE
OVERVIEW
TYPES OF HEMOPHILIA
DISEASE FACTOR DEFICIENCY INHERITANCE
HEMOPHILIA A VIII X-LINKED RECESSIVE
HEMOPHILIA B IX X-LINKED RECESSIVE
HEMOPHILIA C XI AUTOSOMAL RECESSIVE
PARAHEMOPHILIA (OWREN’s
DISEASE)V AUTOSOMAL
RECESSIVE
VON WILLEBRAND
DISEASE VIII:vW Autosomal dominant
HEMOPHILIA AX-linked Inherited DiseaseLack or abnormal production of FACTOR VIII
Factor VIII:C or antihemolytic factor
Most common : 85%1 in 5000-10000 males
60% with severe disease
Activity < 1%
HEMOPHILIA A
CLASSIFICATION
DISTRIBUTION
CLOTTING FACTOR
ACTIVITYSEVERE
HEMOPHILIA 50% <1%
MODERATE HEMOPHILIA 10% 1-5%
MILD HEMOPHILIA 30-40% 5-40%
HEMOPHILIA A
TWO MAJOR TYPES OF BLEEDING1.Spontaneous Bleeding• Severely affected haemophiliacs• Bleeding into muscles
(hematomas)• Bleeding into joints (hemarthrosis)• May result in crippling
2. Post traumatic Bleeding• Produce large hematomas• Dangerous: causes increase
pressure on nerves and blood vessels
• Vascular obstruction may develop into local gangrene
HEMOPHILIA B
Factor IX deficiency10% of all hemophilias
1 in 25000-35000 malesBleeding is not as severe
Factor IX is more stable than factor VIII
30% spontaneous mutation50% with mild to moderate disease
Activity > 1%Christmas disease (1952)
HEMOPHILIA C Rosenthal Syndrome
Least common: less than 5%Factor XI DeficiencyAutosomal Recessive Inherited Disease
Common among Ashkenazi Jews
CLINICAL MANIFESTATION
First discovered during infancy or early childhood
Bleeding into muscle Deep bruises after receiving shots Prolonged bleeding after male child is circumcised
Prolonged bleeding after umbilical cord is cut
CLINICAL MANIFESTATION
Bleeding into joints/muscle causes pain and swelling
Frequent nose bleeds and abnormal bleeding after injury or surgery
Blood found in urine and easy bruising
GENERAL SYMPTOMSCLINICAL MANIFESTATION
BLEEDING INTO MUSCLESSymptoms:
Bruising Swelling Muscle hardening Tenderness Pain
Especially when large muscle groups are affected
CLINICAL MANIFESTATION
CLINICAL MANIFESTATION
COMPARTMENT SYNDROME
Complication of bleeding to in certain muscles which puts pressure on arteries and nerves
Symptoms:Weakness and paleness in affected extremity
Swelling and numbnessSevere pain during movement Inability to move an extremity
PARALYSIS
TREATMENT
OVERVIEWGenetic
- Only women can be carriers- Can be determined by a blood
test Treatment starts at birthReplacement Therapy of deficient factor
Fresh frozen plasma Freeze dried purified concentrate of coagulation factors
HEMOPHILIA CARE Children with Hemophilia can
learn to self-administer their replacement clotting factors as young as 10 years old
CURRENT RESEARCH
FDA, Food and Drug Association has approved a new drug Drug containing clotting factor can be kept at room temperature
makes it easier for small hospitals who lack of freezers
Negative factor: can only be kept for two years instead of three
THERAPY
. .
Short TermLong Term Short Term
• The people have to take medicine for the rest of their lives.
• Have to be very careful about injuries
• Have to learn to recognize all of the symptoms of their
disease
Thank you!