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25
Fuzzy Logic in Diagnostics of Rare Diseases
Tatiana Kiseliova, Maka Korinteli, and Karaman Pagava
25.1
Introduction
Rare disease is any disease that affects a small percentage of the population. There
is no single, widely accepted definition for rare diseases (RDs).
In the United States, a rare disease is strictly defined according to prevalence,
specifically "any disease or condition that affects less than 200,000 persons in the
United States," or about 1 in 1,500 people.
In Japan, the legal definition of a rare disease is one that affects fewer than 50,000
patients in Japan, or about 1 in 2,500 people.
The European Commission on Public Health defines rare diseases as "life-
threatening or chronically debilitating diseases which are of such low prevalence
that special combined efforts are needed to address them." The term low prevalence
is later defined as generally meaning fewer than 1 in 2,000 people. The definitions
used in the medical literature and by national health plans are ranging from 1/1,000
to 1/200,000 [9].
About 80 % of rare diseases are of genetic nature. The great majority of the RDs
are manifesting in childhood. The specific share of the RD within the children and
adolescent morbidity structure is increasing all over the world, particularly, in the
developed countries. The precise data are hardly available.
The general practitioners, perhaps, to more extent in developing countries and
countries with transitional economy, usually are not well-acquainted with the RDs,
and this predetermines the omission of the necessary investigations and vice-versa
- the prescription of a multitude of unnecessary and potentially hazardous invasive
diagnostic interventions. Because of the rarity of this group of diseases and insuf-
ficient implementation of the evidence based medicine principles as well as the ab-
sence of special algorithms, the correct diagnose is usually belated; quite frequently
it is not made at all. It is noteworthy, that according to the available data, there is no
software worldwide (at least within the field of pediatrics), which could be applied
for a purposeful diagnostics of clusters of various RDs.
The treatment and, generally, the management of these diseases cannot be con-
sidered as adequate and efficient. This fact is particularly jeopardizing the children's
