Pregledni rad
Rare Diseases in Croatia – Lesson Learned from Anderson-Fabry Disease
Mirando Mrsić
; University Hospital Centre, Zagreb, Croatia
Sažetak
Rare diseases, also referred to as orphan diseases,
have a very low incidence and include diseases
that occur at a prevalence of less than 5 cases
per 10 000 people in the overall population (1).
New rare diseases are discovered every year, and
some of today’s known diseases in this category
have patient populations of fewer than a hundred
(2). In a country like Croatia (population of 4.5
million), most physicians do not see a single patient
with a rare disease during their entire career.
Hematologists, pathologists, and other specialists
in main hospital centers would probably
see not more than one case in several years.
Rare diseases are mostly genetic. Many of
them are life-threatening or chronically debilitating.
The prevalence of rare diseases may vary
between different populations. In some populations
they may be slightly more frequent than
in others, which is especially true for genetic, infectious,
or malignant diseases. For example, cystic
fibrosis is very rare in Asia but relatively common
in Europe. Other diseases, such as many
rare forms of cancer, have no apparent pattern
of distribution but are simply rare in most countries.
European Organization for Rare Diseases
(EURODIS) estimates that there are between
5000 and 8000 distinct rare diseases affecting 6-
8% of the population (3).
From a societal point of view, many patients
and families affected by a rare disease are often
isolated and thus vulnerable to stress. The life
expectancy of patients with rare diseases is significantly
reduced. Many of them have disabilities
that may become a cause for discrimination,
which in turn might reduce educational, professional,
or social opportunities for these persons.
The research on rare diseases is scarce. The lack
of specific health policies and the scarcity of expertise
translate into delayed appropriate diagnosis
and difficulty of access to care.
National health care services for diagnosis,
treatment, and care of patients with rare disease
differ significantly in terms of their availability,
expertise, and quality. In Croatia, most rare diseases
are infrequently diagnosed, and when diagnosed
they are not given special treatment
and attention. The awareness about rare diseases
remains low among Croatian physicians and
health care system organizations. The need for
creating an infrastructure that would enable early
access to existing treatment by establishing a
special fund for expensive therapies has only
rarely been recognized (4). A special fund was
established on the principle that the society cannot
accept discrimination and the fact that certain
individuals are denied the benefits of medical
progress because the illness they have is rare
or costly. The main goal of this fund is to ensure
equal access to treatment for all such patients.
The most striking progress was made in the field
of lysosomal storage diseases, but gradually more
and more diseases are included.
Ključne riječi
Sick Leave; cross sectional study; workers; retirement; models; organizational; prevention; rehabilitation
Hrčak ID:
29270
URI
Datum izdavanja:
15.10.2008.
Posjeta: 1.113 *