Advanced

Register-based studies to assess long-term outcome in haemophilia

Osooli, Mehdi LU (2017)
Abstract
Introduction
Haemophilia is a X-linked bleeding disorder affecting mostly males. Women are mainly carriers of
haemophilia, however, they can expereince high bleeding tendency and assocaited symptoms as
with males. In the absence of the appropriate treatment, bleedings, especially into the joints, result in
adverse outcomes. The general aim of this thesis was to promote the use of register-based data to
investigate long-term outcomes among persons with haemophilia. In addition, we investigated some
long-term ouctomes among persons with haemophilia and carriers of haemophilia using the available
registers.
Methods
We conducted a scoping study and several large-scale register-based studies to evaluate... (More)
Introduction
Haemophilia is a X-linked bleeding disorder affecting mostly males. Women are mainly carriers of
haemophilia, however, they can expereince high bleeding tendency and assocaited symptoms as
with males. In the absence of the appropriate treatment, bleedings, especially into the joints, result in
adverse outcomes. The general aim of this thesis was to promote the use of register-based data to
investigate long-term outcomes among persons with haemophilia. In addition, we investigated some
long-term ouctomes among persons with haemophilia and carriers of haemophilia using the available
registers.
Methods
We conducted a scoping study and several large-scale register-based studies to evaluate outcome
assessment practice and joint and survival outcomes in haemophilia, respectively. We used data from
the Malmö single centre register (n=167), National Patient Register (mild haemophilia=315 and
carriers of haemophilia=561) and the KAPPA register (severe haemophilia=173) as sources of
inclusion of participants and data on their outcomes. Cross-sectional and longitudinal designs were
used to maximize the use of available data. We investigated joint disease, haemophilia joint health
score, joint surgery and survival of the study participants.
Results and conclusion
The assessment of the literature revealed a paucity of productive registers and inconsistency in their
outcome reporting. Carriers and persons with mild haemophilia are at higher risk of joint disease and
surgery compared to the general population. The index joints are more at risk of surgery in both
groups especially among the older age groups. The KAPPA study showed remarkable health utility
and joint status among younger persons with severe haemophilia on prophylaxis started by age 3. In
the Malmö register study, persons with severe haemophilia born 1980 onwards did not have surgery.
This thesis suggests that carriers of haemophilia and persons with mild haemophilia are at high risk
of joint disease and should be monitored at haemophilia treatment centres for their outcomes.
Registers, when harmonized in terms of structure and outcome assessment, are valuable resources
for generation of epidemiological evidence. (Less)
Please use this url to cite or link to this publication:
author
supervisor
opponent
  • Adjunct Professor Elina Armstrong, Division of Hematology, Comprehensive Cancer Center, Helsinki University Central Hospital, Helsinki, Finland
organization
publishing date
type
Thesis
publication status
published
subject
keywords
Registers, Haemophilia, Carriers of haemophilia, Long-term outcomes, Joint surgery, Survival, Longitudinal Studies
pages
74 pages
publisher
Lund University, Faculty of Medicine
defense location
Lecture hall, Department of Obstetrics & Gynecology, Skåne University Hospital (SUS), Malmö
defense date
2017-05-15 09:00
ISBN
978-91-7619-463-8
language
English
LU publication?
yes
id
f7882197-0f69-45ac-b7e5-9bc7389f132f
date added to LUP
2017-04-25 15:40:38
date last changed
2017-04-26 08:10:55
@phdthesis{f7882197-0f69-45ac-b7e5-9bc7389f132f,
  abstract     = {Introduction<br/>Haemophilia is a X-linked bleeding disorder affecting mostly males. Women are mainly carriers of<br/>haemophilia, however, they can expereince high bleeding tendency and assocaited symptoms as<br/>with males. In the absence of the appropriate treatment, bleedings, especially into the joints, result in<br/>adverse outcomes. The general aim of this thesis was to promote the use of register-based data to<br/>investigate long-term outcomes among persons with haemophilia. In addition, we investigated some<br/>long-term ouctomes among persons with haemophilia and carriers of haemophilia using the available<br/>registers.<br/>Methods<br/>We conducted a scoping study and several large-scale register-based studies to evaluate outcome<br/>assessment practice and joint and survival outcomes in haemophilia, respectively. We used data from<br/>the Malmö single centre register (n=167), National Patient Register (mild haemophilia=315 and<br/>carriers of haemophilia=561) and the KAPPA register (severe haemophilia=173) as sources of<br/>inclusion of participants and data on their outcomes. Cross-sectional and longitudinal designs were<br/>used to maximize the use of available data. We investigated joint disease, haemophilia joint health<br/>score, joint surgery and survival of the study participants.<br/>Results and conclusion<br/>The assessment of the literature revealed a paucity of productive registers and inconsistency in their<br/>outcome reporting. Carriers and persons with mild haemophilia are at higher risk of joint disease and<br/>surgery compared to the general population. The index joints are more at risk of surgery in both<br/>groups especially among the older age groups. The KAPPA study showed remarkable health utility<br/>and joint status among younger persons with severe haemophilia on prophylaxis started by age 3. In<br/>the Malmö register study, persons with severe haemophilia born 1980 onwards did not have surgery.<br/>This thesis suggests that carriers of haemophilia and persons with mild haemophilia are at high risk<br/>of joint disease and should be monitored at haemophilia treatment centres for their outcomes.<br/>Registers, when harmonized in terms of structure and outcome assessment, are valuable resources<br/>for generation of epidemiological evidence.},
  author       = {Osooli, Mehdi},
  isbn         = {978-91-7619-463-8},
  keyword      = {Registers,Haemophilia,Carriers of haemophilia,Long-term outcomes,Joint surgery,Survival,Longitudinal Studies},
  language     = {eng},
  pages        = {74},
  publisher    = {Lund University, Faculty of Medicine},
  school       = {Lund University},
  title        = {Register-based studies to assess long-term outcome in haemophilia},
  year         = {2017},
}