Queen Victoria Family Tree - National Hemophilia Foundation
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Transcript Queen Victoria Family Tree - National Hemophilia Foundation
Celebrating
60 Years of
Caring
NHF Nursing Luncheon
November 14, 2008
Jim Munn, RN, MS
Hemophilia: Early Observations
- Second Century
For it was taught: If she circumcised her
first child and he died [as a result of
bleeding from the operation] and a second
one died [similarly], she must not
circumcise her third child.
R. Judah, the Patriarch, redactor of the Mishnah
Rosner F. Medicine in the Bible and the Talmud, revised ed, New York: Yeshiva University Press, Ktav
Publishing House, 1995.
Early Observations
Tenth Century Islamic Surgeon Abul Qasim
Al-Zahravi (Albucasis) 936-1013 CE
– Considered greatest surgeon of Middle Ages
– Referred to a condition interpreted by scholars
as hemophilia in his encyclopedic work on
medicine and surgery, al-Tasrif
Al-Tasrif Uman ‘Ajiza An Al-Taalif.
Early Observations
Twelfth Century Physician and Talmudist Maimonides states in the
Mishneh Torah1
“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
1. Rosner F. “Moses Maimonides.” Ann Intern Med. 1965;372:1135-1204.
2. Mishneh Torah, Hilkhot Milah. 1:18.
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.
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 sons
Nasse CF. Arch Med Erfahr. 1(1820):385.
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.
Early Observations:
Other Highlights of the Early 1900s
1911: Publication of “monumental review of pedigrees of
families with bleeding disorders”1
1920-1930: Hemophilia treatments published; plasma for
transfusions introduced
1926: Erik vonWillebrand describes bleeding disorder
affecting both sexes
1937: IV administration of redissolved plasma precipitate
shown to shorten blood clotting time2
1937: First permanent blood bank established in US
1. Ingram GIC. J Clin Pathol. 1976;6:3.
2. Brinkhous KM. A Short History of Hemophilia. Handbook of Hemophilia.
New York: American Elsevier, 1975.
1940s
Early to Mid-1940s: Medical progress accompanies war
– Charles Drew sets standard for collecting, storing
and transporting plasma under “battlefield
conditions”
– Edwin Cohn, Harvard biochemist, first to use
fractionation process to produce albumin in 19441
– Albumin usefulness spurs research in blood
component therapy by “clotters”
– 1946-1947: Hemophilia defect in plasma
component2
1. Latham A Jr. Vox Sang. 1986;51(3):249-52.
2. Brinkhous KM. Proc Soc Exper Biol and Med. Oct. 1947;66:117-120.
1940s
1948: A golden decade
for coagulation
research begins
Hemophilia
Foundation
established 6/15/48
Hemophilic dog colony
established: Chapel
Hill, North Carolina
©UNC Center for Thrombosis and Hemostasis
Smith N. A History of the National Hemophilia Foundation.
New York: National Hemophilia Foundation, 1984.
1950s
First
recommendation
for home infusion
1959: First
hemophilia
treatment center
in Rochester, NY
Photos of Mary Gooley (above) courtesy of the
Mary M. Gooley Hemophilia Center, Rochester, NY
Smith N. A History of the National Hemophilia Foundation. New York:
National Hemophilia Foundation, 1984.
1950s
Biggs R, et al. Br Med J. Dec. 27, 1952;1378. With permission from BMJ Publishing Group.
1950s
1952: Evolution of the definition of hemophilia:
– A blood clotting disorder affecting males with two
possible major protein deficiencies:
•
•
FVIII - Hemophilia A
FIX - Hemophilia B
– Thromboplastin generation test for measuring
FVIII developed
– Coagulation cascade discovered
Langdell RD, et al. J Lab Clin Med. 1953;41:637-647.
1950s
1958: First use of prophylaxis in Hemophilia A
conducted in Sweden by Prof. Inga Marie
Nilsson
1960s
1960s: NIH grants create research climate
1961: Hyland Laboratories begins work on FVIII
concentrate
1966: Peanut flour touted as treatment for hemophilia –
Nature 1
1. Nature. February 13, 1969. Vol. 185, No. 4711, pp. 469-470.
1960s
1965:
Discovery of
Cryoprecipitate
Judith Graham Pool, MD
File photo courtesy of HANDI, NHF.
Pool JG, Shannon AE. N Engl J Med. 1965:273:1443-1447.
1960s
1966: Hyland
announces commercial
availability of FVIII
concentrates
1969: FIX concentrate
licensed1
1. Hoag MS, et al. N Eng J Med.1969;280(11):581-6.
1960s
Continuous infusion
Predictable and sustained level over time
Cost savings due to decreased
– Laboratory evaluations
– Clearance over time
Ideal replacement for surgical interventions and
specific bleeding episodes in hemophilia
McMillan CW, et al. Br J Haematol. 1970;18:659-667.
Hathaway WE, et al. Am J Hematol.1984;17:85-88.
Shulman NR, et al, Ann Intern Med. 1967;67:856.
1960s
1969:
First hemophilia camp established
1970s
1.
2.
3.
1970s: Home infusion therapy: a common
treatment practice
1971: von Willebrand’s factor identified¹
1974: First successful immune tolerance²
1975: Federally funded comprehensive
hemophilia treatment centers initiated
1977: Mannucci discovers DDAVP increases FVIII
and vWF levels3
Zimmerman, TS, et al. J Clin Invest.1971;50:244-254.
Brackmann HH, Lancet 1977; 2 (8044): 933.
Mannucci PM. Lancet. 1977;1:869-872.
Regional Hemophilia
Treatment Center Network
1970s
Revisiting use of Prophylaxis
UK study – 9 boys with Hem A <1%
- Randomized, blinded, crossover study
- Had target joints present
- Received 25% correction with FVIII or placebo once a
week, followed by week of rest
- Showed 15% reduction in bleeding episodes in 100 day
period (from 13.6 episodes to 11.6)
- 66% decrease in bleeds in first three days of the week
Aronstam. 1976. Brit J Haematol. 33:81.
.
1970s
Transmission of blood-borne diseases:
– Hepatitis B: HBV
– Hepatitis non-A, non-B: Later called “C”
– HIV
Mannucci PM, et al. J Clin Pathol. 1975;28(8):620-624.
Schramm W, et al. Blut. 1989;59(4):390-392.
Hepatitis B Virus: HBV
Lipid-enveloped DNA virus
Replicates within liver cells
Transmitted by exchange of
bodily fluids
90% recover with immunity;
10% develop chronic HBV of
which
20-30% progress to
cirrhosis
Virion sensitive to heat and
solvent/detergent
1981: Hep B vaccine plasma
derived
1987: Hep B vaccine
recombinant licensed
Electron micrograph of Hepatitis B
Virions courtesy of the CDC
The Price of Independence
Non-A, non-B (Hepatitis C) recognized as
transmissible via plasma-derived products
– 1986: Commercial screening for non-A, non-B
hepatitis surrogate markers
– 1989: Hepatitis C isolated
– 1990: Hepatitis C Ab testing of donated blood
begins
Hepatitis C Virus: HCV
Lipid-enveloped RNA virus
Replicates within infected liver cells
Transmitted by the exchange of bodily fluids
85% or more with acute HCV infection progress
to chronic hepatitis*
Virion sensitive to heat and solvent/detergent
No vaccine available
* Seeff LB. Am J Med. Dec. 1999;107[6B]:10S-15S.
1980s
MMWR July 16, 1982/31(27):365-367.
The Price of Independence
1983: Suspicion that HIV threatened the worldwide blood supply
April 1, 1983: Hemofil-T, first heat-treated FVIII concentrate in the U.S.
1984: Montagnier1 and Gallo2 discover HTLV-3 (HIV)
1984: Efficacy of heat treatment for viral inactivation demonstrated
1984: Recall of blood products initiated
1985: ELISA test used to detect HIV antibodies among blood donors
1985: Safety net:
1.
2.
3.
Donor deferral
Viral inactivation methods
HIV antibody testing
1. Barre-Sinoussi F, et al. Science 1983; 220(4599):868-71.
2. Gallo RC, et al. Science 1984; 4;224(4648):500-3.
The Heroes We Care For
Photo courtesy of Mary Lou Cygan, R.N., P.N.P.
1980s
1990s
1991 – Karolinska University – Stockholm, Sweden
Dr. Petrini and colleagues describe prevention of
joint disease in boys with hemophilia under age
two.
Lusher, J. 2008. HemAware. 13: 8.
1990s
HTC (%)
Non-HTC (%)
P
Mild
21.8
52.8
<.001
Moderate
24.2
26.7
Severe
54.0
20.5
6.0
2.3
<.001
Characteristics
Severity
Inhibitors
Liver disease
2.3
0.7
.002
HIV infection
31.1
17.1
<.001
AIDS
8.2
5.9
.02
Soucie JM, et al. Blood. 2000;96(2):437-442.
1990s
Mortality decreased 40% in patients using a
comprehensive hemophilia treatment center
(HTC)
“The finding that HTCs have a significant effect on
reducing mortality in patients with hemophilia supports
the effectiveness of such centers in providing specialized
preventative care.”
Soucie JM, et al. Blood. 2000;96(2):437-442.
1990s
Prophylaxis recommendation
Primary
– Early institution ~ 1-2 years with the aim of maintaining
trough > 1%
– Longitudinal assessment of joint status essential
Secondary
– Appropriate for intervention to prevent joint and other
disease associated morbidities
MASAC Recommendation #35. March 11, 1994.
2000s
Gene therapy trials begun
Joint Outcome Study published1
National Pain Survey
Willetabs and Wilbrintin advertised as
treatment for vWD
Manco-Johnson, et al. NEJM. 2007. Vol. 357:(6) 535-544.
Hemophilia A: Evolution of Therapy
Year
Therapy
1950
Plasma (1-FVIII U/ml)
1966
Cryoprecipitate (5-FVIII U/ml)
1975
Lyophilized concentrates (30-FVIII U/ml)
1983
Heat treatment of lyophilized concentrates for viral attenuation
1985
Introduction of a solvent detergent for viral inactivation
1988
Monoclonal antibody-purified FVIII concentrates with heat or
solvent detergent treatment
1992
Recombinant DNA products: 1st generation
2000s
2nd & 3rd generation recombinant products
Hemophilia B: Evolution of Therapy
Year
Therapy
1950
Plasma (1-FIX U/ml)
1975
Lyophilized prothrombin complex concentrates or PCC (30-FIX
U/ml)
Heat treatment of lyophilized concentrates for viral attenuation
Development of a solvent detergent for viral inactivation
1985
1992
Chromatographic/monoclonal antibody-purified FIX concentrate
with ultrafiltration and thiocyanate treatment
1997
Recombinant DNA product
The Future
Longer acting concentrates
Recombinant therapy for vWD
Alternate route therapies
Gene transplantation
Elimination of transfusion-associated infections
Understand and overcome inhibitor development
Quality of life issues
– Elimination of joint morbidity
– Optimizing the individual’s social and academic
performance
The Future…
…the promise of achieving your potential