CAUSES AND

DIAGNOSIS
OF
DISEASE
Causes and diagn11osis of Disease

Definitions
Disease ;

a disorder of structure or
function in a human, animal, or plant,
especially one that produces specific
symptoms or that affects a specific
location and is not simply a direct
result of physical injury.

Pathology ;

From Greek pathos =

suffering or disease, ology = study
Causes and diagnosis of Disease

Pathology
Is the foundation of medical science and
practice. Without Pathology the practice of
Medicine would be reduced to myths and
folklore.
The study of pathology involves
observations of patients (Clinical Pathology)
or Experimental studies on animals and cell
cultures.
Within the discipline of Pathology there are
numerous subspecialities:
Causes and diagnosis of Disease

Causes and diagnosis of Disease

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Subspecialties of Pathology
Cellular pathology, including histopathology; (the
study of tissues) and cytopathology (the branch in
which diagnoses are made from the study of separated
cells).
Morbid anatomy; Is an old term which refers to post
mortem dissection, and Forensic pathology is the related
branch concerned with medicolegal postmortem exami
nations. these are carried out under the aegis of a legal
officer, for example the coroner in England and Wales and the
procurator fiscal in scotland.
Microbiology; The study of infectious diseases and their
causes. this can be subdivided into bacteriology, virology,
mycology (the study of fungi) and protozoology (the study of
infections by protozoa).
Causes and diagnosis of Disease

Subspecialties of Pathology
Haematology; The laboratory study of diseases of the
blood. This is also a clinical discipline, its practitioners
dealing with patients with these disorders. Most
haematologists work in both clinical and laboratory
arenas.
Chemical pathology or clinical biochemistry; Is the study
of body chemistry, usually by assaying the levels of sub
stances - electrolytes, enzymes, lipids, trace elements - in
the blood or urine. Increasing sophistication of analytical
requirements often means that this discipline is at the cutting
edge of new technology:
Causes and diagnosis of Disease

Subspecialties of Pathology
Immunology ; Is the study of host defences against
external threats. many of these are microbiological, but
some are chemical, for example foodstuffs. in addition,
this is also the study of autoimmunity, when the bodys
defence systems are turned on itself
Genetics; The study of inheritance of characteristics
and of diseases, or predisposition to diseases. Clinical
geneticists, like haematologists, are directly involved with
patients, while laboratory-based geneticists apply
the traditional techniques of karyotyping, the microscopic
examination of chromosomes in cells in mitosis, and the
whole spectrum of modern molecular techniques, such as
polymerase chain reaction (PCR), fluorescence in-situ
hybridization (FISH), gene expression profiling and DNA
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Causes and diagnosis of Disease

Causes and diagnosis of Disease

WHICH PATHOLOGY SUBSPECIALTY MAY DEAL

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Cytology
Microbiology
Chemical
pathology
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Causes of Disease
Diseases may be caused by;
1. Genetic Factors
2. Environmental Factors
3. Multifactorial

Causes and diagnosis of Disease

Genetic Causes of Disease

Maybe inherited from parents or due to prenatal
mutations .
Could be due to chromosomal defects or gene defects

May be present at birth or may manifest years later.

Clustered in families.
Examples include; Cystic fibrosis, Thalassaemia,
sickle cell anaemia, Downs syndrome.
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Environmental causes of
Disease
Currently most common cause affecting every human
being.

Can occur at any age, but some show age bias.

Could be present at birth (congenital) , e.g. Heart
abnormalities, birth defects due to German measles,
cerebral palsy.
Many are treatable.
May show association with certain environmental risks
e.g. Food, Geographic location, activity or profession..etc.
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ENVIRONMENTAL CAUSES OF DISEASE

May be caused by:-

Infection;
Bacteria; Tuberculosis, Syphilis, Typhoid,
Viruses; Mumps, chicken pox, Aids.
Fungi; Candida (Thrush), Aspergillosis, Histoplasmosis
Parasites; Leishmania, Malaria , Bilharzia.
Prions; CreutzfeldtJakob disease (CJD).

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Environmental causes of Disease

Physical Agents;
Mechanical; Bullets, stabs, trauma.
Thermal; Burns (hot or cold), hypothermia, Pyrexia.
Radiation; UV rays, Ionizing radiation (Nuclear, X-Ray)

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Environmental causes of Disease

Chemical agents or drugs;
Corrosive effects; hydrochloric acid, sodium hydroxide,
bleach
Metabolic effects; Alcohol
Membrane effects; Many chemicals
Mutagenic effects; Azo dyes, vinyl chloride.
Allergic effects; Dust, pollen, drugs
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Environmental causes of Disease

Nutritional Imbalances;
Deficiencies:
Excesses; Vit A

Immunological reaction;
Shock
Autoimmune disorders

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Environmental causes of Disease

Hormones;
Excess; Gigantism, Cushings disease
Deficiency; Dwarfism, Diabetes

Hypoxia; Co2 or Co poisoning

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Multifactorial causes of
Disease
Many diseases are not caused by exclusive
genetic or environmental caused but as an
interaction of the two. The term
Predisposition or Predisposing factors is
used to indicate underlying genetic or
environmental characteristics that influence
the susceptibility or reaction of an individual to
possible causative factors but in itself cannot
cause a disease.
MHC B27 which is an inherited characteristic
prediposes those possessing it to develop
Ankylosing spondylitis.
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Aspects of Disease
All diseases have a set of characteristic features
enabling them to be better understood, categorised
and diagnosed. These include;
Aetiology; (cause or initiator of Disease)

Pathogenesis; (mechanism through which the

aetiological factor operates to produce the pathological
and clinical manifestations)

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Aspects of Disease
Morphological, functional and clinical changes;
The functional and structural changes (signs and
symptoms) that are caused by the aetiological agent in
producing the disease, e.g. Weight loss, pain, swelling.

Complications and sequelae; The prolonged,

secondary or distant effects.

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Aspects of Disease

Prognosis; The likely course of the disease in

terms of cure, remission or the fate of the patient.

Epidemiology; Pathology of the population, measured

by incidence, prevalence, remission and mortality
( Probability that death will be the end result of the disease
expressed as a percentage).

Morbidity; The sum of the effects of the disease on the

patient.
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Causes and diagnosis of Disease

Classification of Disease

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Some common Pathological terms

Primary and Secondary;
1. They may be used to describe the causation of a disease. Primary in
this context means that the disease is without evident antecedent
cause. Other words which have the same meaning in this context are
essential, idiopathic and cryptogenic. Thus, primary hypertension is
defined as abnormally high blood pressure without apparent cause.
Secondary means that the disease represents a complication or
manifestation of some underlying lesion. Thus, secondary
hypertension is defined as abnormally high blood pressure as a
consequence of some other lesion (e.g. renal artery stenosis).
2. The words primary and secondary may be used to distinguish between
the initial and subsequent stages of a disease, most commonly in
cancer. The primary tumour is the initial tumour from which cancer
cells disseminate to cause secondary tumours elsewhere in the body.
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Some common Pathological terms

Acute and Chronic;
Acute and chronic are terms used to describe the
dynamics of a disease.
Acute conditions have a rapid onset, often but not
always followed by a rapid resolution.
Chronic conditions may follow an acute initial
episode, but often are of insidious onset, and have a
prolonged course lasting months or years.
Subacute, a term not often used now, is intermediate
between
acute and chronic
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Causes and diagnosis of Disease

Some common Pathological terms

Benign and Malignant;
Mainly used in tumours and usually relates to the likely
outcome.
benign tumours remain localised to the tissue of origin and
are very rarely lethal unless they compress some vital
structure (e.g. brain), whereas
malignant tumours invade and spread from their origin and
are commonly lethal.
Benign hypertension is relatively mild elevation of blood
pressure that develops gradually and causes insidious injury
to the organs of the body. In contrasts, in malignant
hypertension, the blood pressure rises rapidly and causes
severe symptoms and tissue injury.
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Causes and diagnosis of Disease

Some commonly used prefixes

a-, meaning without (aplasia)
ana-, meaning absence (e.g. anaphylaxis)
dys-, meaning disordered or bad (e.g. dysplasia)
hyper-, meaning an excess over normal (e.g.
hyperthyroidism)
hypo-, meaning a deficiency below normal (e.g.
hypothyroidism)
meta-, meaning a change from one state to another
(e.g. metaplasia)
neo-, meaning new (e.g. neoplasia).
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Some commonly used prefixes

-itis,

meaning an inflammatory process

(e.g. appendicitis)
-oma, meaning a tumour (e.g. carcinoma)
-osis, meaning state or condition, not necessarily
pathological (e.g. osteoarthrosis)
-oid, meaning bearing a resemblance to
(e.g. rheumatoid disease)
-penia, meaning lack of (e.g. thrombocytopenia)
-cytosis, meaning increased number of cells, usually in
blood (e.g. leukocytosis)
-ectasis, meaning dilatation (e.g. bronchiectasis)
-plasia, meaning a disorder of growth (e.g. hyperplasia)
-apathy, meaning an abnormal state lacking specific
characteristics (e.g. lymphadenopathy).
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