Nairobi Kenya June 24 2013 Jim Munn RN MS Program Nurse Coordinator University of Michigan HTC Ann Arbor MI USA Chair WFH Nursing Committee Acknowledgement Slides 2021 2328 ID: 225734
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Slide1
Diagnosis of Hemophilia
Nairobi, Kenya
June 24, 2013Slide2
Jim Munn, R.N., M.S.
Program Nurse Coordinator
University of Michigan HTC
Ann Arbor, MI, USA
Chair – WFH Nursing
Committee
Acknowledgement
:
Slides 20,21, 23-28
reproduced
with permission from Partners in Bleeding Disorders Education
Program
www.partnersprn.orgSlide3
Objectives
Discuss the history of hemophilia
Illustrate the clotting cascade and how bleeding occurs
Describe the two main types of hemophilia
Classify
the severities of
hemophilia
List common presenting symptoms in patients with hemophilia
Examine the process of diagnosing hemophilia
Identify common labs used to diagnose hemophiliaSlide4
Early Observations
“If a woman had her first son circumcised and he died as a result of the circumcision, which enfeebled his strength, and she similarly had her second [son] circumcised and he died as a result of the circumcision - whether [the latter child] was from her first husband or her second husband - the third son may not be circumcised at the proper time [on the eighth day of life]…”
2
Twelfth Century Physician and Talmudist Maimonides
states
in the
Mishneh
Torah
1
1
.
Rosner
F. “Moses Maimonides.”
Ann Intern Med
. 1965;372:1135-1204.
2.
Mishneh
Torah,
Hilkhot
Milah
.
1:18.Slide5
Early Observations
1803: John Conrad Otto
Provided first accurate account of hemophilia in the modern medical literature
His investigation of “bleeders” was published in a New York journal under the title, “An Account of an Hemorrhagic Disposition Existing in Certain Families”
Traced to woman who settled in Plymouth, New Hampshire in 1720
Otto JC.
The Medical Repository
.
1803;Vol VI (No 1):1-4.Slide6
Early Observations
1820:
Nasse
of Bonn
German
physician 1778-1851
Formulated observations on inheritance of hemophilia
“
Nasse’s Law”: Transmitted by unaffected females to their sonsNasse CF. Arch Med
Erfahr. 1(1820):385.Slide7
Early Observations
1828:
The word “hemophilia” first appears in a description of inherited bleeding disorders by Physician Frederick
Hopff
at the University of
Zurich
1840:
First recorded case of hemophilia treatment by transfusion written by Samuel Lane in
The Lancet
1
1893: First documentation of abnormal prolongation of coagulation in capillary tube in hemophilics2 1. Farr AD. J Royal Soc Med. April 1981;74(4):301-305.2. Wright AE. Br Med J.
1893;2:223-225.Slide8
The royal disease: queen victoria
family treeSlide9
The Coagulation System
Fibrinolysis
Coagulation inhibitors
Procoagulants
Platelet
Endothelial
CellSlide10
The Clotting cascade
Intrinsic pathway (I.P.)
Extrinsic pathway (E.P.)
XII
XI
IX
X
VII
Prothrombin
(II)
Thrombin
Fibrinogen
Fibrin
CLOT FORMATION
VIII
V
XIIISlide11
How does Clotting occur?Slide12
What is Hemophilia?
Rare, genetic
condition
Gene
located on the X chromosome
Results in bleeding manifestations in affected individuals
Present
at birth and continues throughout life
Decreased
amount or impaired functioning of one of the
plasma proteinsUsually factor VIII (eight) or IX (nine)Factor levels usually do not change over timeSlide13
Why do people with hemophilia bleed longer?
In hemophilia, one
clotting factor is missing, or the level of that factor is low.
It is
d
ifficult
for the blood to form a clot, so bleeding continues longer than
usual (not faster). Slide14
Types of Hemophilia
Hem A/Factor VIII
Hem
B/Factor IX
Hem
C/Factor XI
1:5,000
males
80-85%
1:25,000
males 15-20%
Types
Prevalence
%
of
Cases
All types:
Affect
all
races
Worldwide
distributionSlide15
Severity of Hemophilia
Low
levels of factor VIII (eight
) =
hemophilia
A
.
Low
levels of factor IX (nine) =
hemophilia B. Hemophilia A and B can be mild, moderate, or severe, depending on the level of clotting factor.Severity of symptoms often corresponds to factor levelSlide16
Common presenting symptoms in hemophilia
Bleeding at circumcision
Mouth bleeds in young children
Excessive bruising, hematomas – especially in areas not subjected to bumps and scrapes
Head bleeding related to birth trauma
Joint bleeding
Muscle bleeding
Bleeding after surgery, dental work, or trauma
In severe hemophilia, bleeding can be spontaneousSlide17
Diagnosing Hemophilia: History and Physical
Accurate and detailed history with assessment of bleeding episodes and trauma in individuals with bleeding disorders is essential for determining appropriate care
Use age-appropriate approach
Get a patient and family history
Start general (ROS), get specific
History and assessment may be as, or more, important as labs/imaging
Listen to the patient and family
The
process is continuous from first notification of event to follow-upSlide18
The 7
History and Assessment Questions
What are the symptoms?
How long have the symptoms been present?
What treatment was
given, and when?
Did an injury happen before the symptoms started?
Did a similar problem occur in the past
?
How was that problem treated?
Did that treatment resolve the issue?Slide19
Laboratory Evaluation
Laboratory
evaluation is guided by thorough history & physical examination
Clinical
impression is critical to
determine:
Extent
of
evaluation
Phase of coagulation most likely abnormal
Need for repeated evaluationsSlide20
Laboratory Evaluation
: Guided by Symptoms
Petechiae
Abnormal
bruising
Mucocutaneous
bleeding
Abnormal
platelet number or
functionDeep tissue, muscle, joint bleedingAbnormal bruisingBleeding with injury, surgery
Abnormal
procoagulants
Delayed bleeding
Abnormal
fibrinolysisSlide21
The Clotting cascade: PT AND APTT
Intrinsic pathway (I.P.)
Extrinsic pathway (E.P.)
XII
XI
IX
X
VII
Prothrombin
(II)
Thrombin
Fibrinogen
Fibrin
CLOT FORMATION
VIII
V
XIII
APTT
PTSlide22
Laboratory Evaluation: APTT
Activated
partial
thromboplastin
time (
aPTT
)
Non-specific test of
“intrinsic system”
aPTT screens for
abnormality in factors VIII, IX, XI, XIIActivated Partial Thromboplastin Time. Virginia Commonwealth University, 2005. http://www.pathology.vcu.edu/clinical/coag/aPTT.pdf.Laboratory Evaluation of Hemostasis. Virginia Commonwealth University, no date. http://www.pathology.vcu.edu/clinical/coag/Lab%20Hemostasis.pdf.Slide23
Laboratory Evaluation: PT
Prothrombin
time (PT)
Tests efficiency of
“extrinsic system”
PT sole
abnormality
factor VII
Abnormality
of PT may be due to deficiency in factors VII, X, VSomewhat useful for detecting changes in factors II (prothrombin) and I (fibrinogen)Laboratory Evaluation of Hemostasis. Virginia Commonwealth University, no date. http://www.pathology.vcu.edu/clinical/coag/Lab%20Hemostasis.pdfSlide24
Laboratory Evaluation: Prolonged PT and
aptt
Common pathway
Both
PT &
aPTT
prolonged
May
be due to deficiency in f
actors X, V, II, I (fibrinogen)May also indicate vitamin K deficiency: factors II, VII, IX, X
Laboratory Evaluation of Hemostasis. Virginia Commonwealth University, no date. http://www.pathology.vcu.edu/clinical/coag/Lab%20Hemostasis.pdfSlide25
Mixing Study
Prolonged coagulation screening tests such as PT &
aPTT
should first be followed by a mixing study
Mixing study consists of mixing equal parts the patient’s plasma with a known normal plasma
Coagulation
test is then
repeated
Correction
of the test to the normal
range = Factor deficiencyLack of correction of the test to the normal range = InhibitorPartial Thromboplastin Time Mixing Study. University of Alabama at Birmingham Coagulation Service, no date.
http://peir.path.uab.edu/coag/article_101.shtmSlide26
Mixed with
normal
plasma
aPTT
corrects =
F
actor deficiency
Patient with prolonged
aPTT
+Slide27
Mixed with
normal
plasma
aPTT
does not correct or
re-prolongs with incubation =
Inhibitor
Patient with prolonged
aPTT
+Slide28
Specific Factor Assays
Factor VIII level
Factor IX level
May need repeat testing as factor IX levels are typically low at birth due to immature liver (vitamin K-dependent protein)
Cord blood sampling can be done
Exposure to blood products for treatment can falsely elevate factor levelsSlide29
Summary
Hemophilia has been around as long as people have been around.
Hemophilia is not a “Royal Disease”.
Symptoms typically appear earlier in life in severe disease.
Clotting involves a complex series of reactions between a number of components.
The diagnosis of hemophilia requires a coordinated approach.
Careful history and physical should precede any laboratory investigations.
Labs may need to be repeated.Slide30
ADDitional WFH resources
Diagnosis of Hemophilia and Other Bleeding Disorders: A Laboratory Manual
Guidelines for the Management of Hemophilia, 2
nd
edition, Section 3.
Visit the Publications Library at
www.wfh.org/publications
for free copies