Aetiology and pathogenesis

of diseases
• Overview
• Aetiology
• Pathogenesis
• Manifestations of disease
Learning outcomes
• To define the terms used in describing
the characteristics of diseases
• Explain the difference between aetiology
and risk factors
• To understand the pathogenesis and
characteristics of diseases
Aetiology and pathogenesis
of diseases
• Overview
• Aetiology
• Pathogenesis
• Manifestations of disease
 Characteristics of Disease
- overview
• Aetiology: Cause of a disease
• Pathogenesis: Mechanisms causing the disease
• Pathological & Clinical manifestations:
Structural and functional features,
symptoms, signs
• Complications: Secondary effect
• Prognosis: Outcome of a disease
• Epidemiology: The incidence, prevalence and
population distribution of a disease
Aetiology and pathogenesis
of diseases
• Overview
• Aetiology
• Pathogenesis
• Manifestations of disease
 Aetiology (Cause)
The initiator of the subsequent events resulting in
patient’s illness (the causes of diseases)
• Genetic:
– Inherited
– Acquired (during conception or embryogenesis, or
during post-natal life)
• Environmental:
- Infectious agents: bacteria, virus, fungi, parasite
- Chemicals
- Physical: radiation, mechanical trauma
• Multifactorial (genetic and environmental)
 Multifactorial aetiology
Diseases due to a combination of causes
Proportionate risk of disease due to genetic
or environmental factors
 Aetiology (Cause)
• Unknown aetiology:
Classified as: idiopathic, primary, essential
spontaneous, cryptogenic
• Risk factor:
The aetiology of a disease is unknown, but
the disease is observed in people with
certain habits such as smoking, age, or
occupations
Aetiology and pathogenesis
of diseases
• Overview
• Aetiology
• Pathogenesis
• Manifestations of disease
 Pathogenesis
The pathogenesis of a disease is:

The mechanism through which the aetiology

(cause) operates to produce the
pathological and clinical manifestations
 Examples of Pathogenesis
Inflammation:
A response to many micro-organisms and other
harmful agents causing tissue injury
Degeneration:
A deterioration of cells or tissues in response to, or
failure of adaptation to, a variety of agents
Carcinogenesis:
The mechanism by which cancer-causing
agents result in the development of tumours
Aetiology and pathogenesis
of diseases
• Overview
• Aetiology
• Pathogenesis
• Manifestations of disease
 Symptoms and Signs
Symptoms of a disease:
What the patient suffers or patient's
complaints

Common symptoms: pain, fever, nausea

Specific symptoms: diarrhoea or constipation, skin rash

Signs of a disease
What the doctor is looking for:

body temperature, blood pressure

 Syndrome
An aggregate of signs and symptoms or a
combination of lesions without which the
disease cannot be recognised or diagnosed

Cushing’s syndrome:

Obesity, hypertension, thinning skin that bruises

easily, reddish-purple stretch marks on the thighs,
stomach, buttocks, arms, legs or
breasts etc. Due to too much adrenocorticotropic
hormone (ACTH)
 Lesions

Lesions:
The structural or functional abnormality
responsible for the ill health

Example:
Myocardial infarction, the
infarct or patch of dead
heart muscle is the lesion
 Complications

Complications:
The prolonged, secondary or distant effects
of a disease

Example:
Lung embolism due to
the thrombosis in the leg
vein
 Prognosis

• The anticipated outcome (forecasting the known

or likely course) of a disease
Example: The 5-year survival prospects for lung
cancer are about 5%
• The purpose is to plan appropriate treatment and
to give useful information to individual patients
• The prognosis of a certain disease is influenced
by medical or surgical intervention
 Epidemiology

Pathology of the populations

Determination of causes, incidence,

mortality, characteristic behaviour of
disease outbreaks affecting human
populations
 Morbidity
Morbidity of a disease:
The disease state of an individual, or the
incidence of illness in a population - The
proportion of patients with a particular disease
during a given year per given unit of population

For example:
WHO source: Morbidity of Influenza is about 5 –
10% in adults and 20 – 30% in children
 Mortality
• Mortality of a disease is the probability
that death will be the end result of that
disease
• Mortality is expressed usually as a
percentage of all those patients presenting
with the disease
• For example: the mortality rate of
myocardial infarction could be stated as
50% under defined circumstances
 Prevalence
Prevalence of a disease - The total
number of cases of a given disease in a
specified population at a designated time

Different from morbidity (incidence), which

refers to the number of new cases in the
population at a given time

For example: The prevalence of diabetes

in UK is 6% in 2013 (report Feb 2014)
 Relationship

Aetiology

Pathogenesis

Lung cancer
Disease
(structural & functional
damage)

Complication
 Relationship

Aetiology

Pathogenesis

Hypertension
Disease
(structural & functional
damage)

Complication
 In lecture test question
True or False
The following are correctly paired
a) Idiopathic – cause unknown
b) Pathogenesis – direct cause of disease
c) Congenital – present at birth
d) Prognosis – likely disease outcome
e) aetiology – mechanisms of disease
 Summary

• Disease: Characteristics
• Aetiology (Cause):
Genetic/environmental/multifactorial
• Pathogenesis
• Terminology: symptom / sign / syndrome
• Epidemiology: morbidity, mortality, prevalence