Pathophysiology 101-823

Unit 1
Basic Concepts of
Health & Disease
Paul Anderson

2011

Learning Objectives
Describe health and disease in terms of the homeostatic model of the human
body.
Explain how disease of cells, tissues or organs affects homeostasis and relate
selected disequilibria to their diseases of origin.
Explain how homeostatic responses may cause clinical manifestations of
disease.
Define the terms etiology, physiology, pathology, pathophysiology.
Define etiological factors and distinguish between genetic and environmental
factors.
Define multifactorial, congenital and acquired, infectious, contagious
(communicable) diseases.
Define clinical manifestations, signs, symptoms, syndrome.
Describe the process of diagnosing diseases and requirements of good lab tests.
Describe the clinical course & appearance of disease, defining the terms acute
and chronic diseases, preclinical, clinical, subclinical and carrier.
Compare how a disease is studied by means of epidemiology and by the study of
its pathogenesis.
Define mortality, morbidity, incidence and prevalence of diseases.
References: Porth, Pathophysiology, Ch. 1 pp. 2 - 9, Ch. 9 (Homeostasis)
Porth, Essentials, Introduction, pp. xxxi-xxxv, Ch. 7 (Homeostasis).
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Disease and Health

What is Health?
Health can be defined as a state of complete
physical, mental and social well being, not
merely the absence of disease and infirmity
(World Health Organisation WHO 1948).

What is Disease?
Disease can be defined as a recognisable
deviation from the normal structure and
functioning of a body system or its
components.
Diseases may also be called Disorders.
3

How Disease affects Homeostatic Mechanisms

Homeostatic Control Systems are Sensitive to
Changes in the Internal Environment & produce
Compensatory Negative Feedback Responses.
Disease affects Homeostatic mechanisms in 4 ways
A. Disease Disturbs Homeostasis, causing Disequilibria.
B. Disease causes a Failure of Homeostatic Adaptation
i.e. failure to restore homeostasis.
C. The diseased body does adapt to disequilibria caused
by disease through its homeostatic mechanisms, but
sometimes Overcompensates to cause Secondary
Disease.
D. Compensatory Homeostatic Responses can produce
Clinical Manifestations of an existing disease.
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A. Disease Causes Disequilibria

Disease disturbs Homeostasis
Producing a State of Disequilibrium
Disease

damages

Glomerulonephritis

cells

epithelial cells

tissues

organs

Glomerular Epithelium

Kidney

Loss of
Filtration of blood
homeostatic
Urine formation:
function
Disequilibrium

Hypertension
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Heart Disease Causes Disequilibrium

Coronary Heart
Disease (CHD)

Heart cells die

(Myocardial
Infarction)

Hypotension

Ventricular
muscle
weakened

Hearts pumping
ability declines
(cardiogenic shock a dangerous
complication of
CHD)

Reduced
cardiac output

Note: CHD = Coronary Artery Disease - CAD

Examples of Disequilibria

DISEQUILIBRIUM

Fever
Edema
Hypertension
Hypotension

FACTOR AFFECTED

POSSIBLE CAUSES

- elevated body temp. Viral/bacterial infection

- elevated body [H20]
- elevated ABP
- lowered ABP

Hyperglycemia

- elevated plasma
[glucose] -"blood sugar

Hypoxia

- lowered tissue pO2

kidney disease
(causing fluid retention)
CV or kidney disease
hemorrhage or heart disease
Diabetes mellitus
Respiratory or CV disease

B. Disease causes a Failure to Maintain Homeostasis

Diseased organs, tissues, cells cannot properly adapt
to environmental changes and maintain homeostasis.
With disease there is therefore a tendency for
persistence of disequilibria that may lead to other
disequilibria and secondary disease.
Thus in Diabetes mellitus, chronic hyperglycemia with
disordered metabolism causes further disequilibria
such as dehydration and ketoacidosis.
Complications of diabetes from secondary diseases
are superficial infections and diseases of the eyes,
kidneys, nerves and arteries.

Adaptations to Homeostatic Imbalance in Health & Disease

Healthy Adaptation is Homeostatic, restoring normal
equilibrium and health.
In Disease there is a Failure of Normal Adaptation
causing persistent disequilibrium leading to other
disequilibria and secondary disease.
Disturbance to Homeostasis

Disequilibrium removed Adaptation

Homeostasis restored

Disequilibrium remains
Further disequilibria may occur
Secondary disease may occur

Health

Disease
normal

abnormal

Local Adaptations to Environmental Change

Local Adaptations to Environmental Change are Cellular
myocardial hypertrophy in an athlete (normal): cells increase in
size uniformly.
myocardial hypertrophy in hypertensive patient (abnormal): cells
increase in size abnormally (width more than length)
Exercise causes
increased
oxygen demands
by muscles

Normal Hypertrophy
increases cardiac
output & reduces
stress on heart
muscle

Health

Increased
Workload on
Heart
Local (Cellular)
Adaptation

Chronic hypertension
means heart must
generate higher
pressure to eject
blood
Abnormal Hypertrophy
may cause decline in
cardiac output

Disease
Porth fig 5-2

Systemic Adaptations to Environmental Change

Systemic Adaptations to Environmental Change involves
Homeostatic Control Systems
Restoring the blood sugar level to normal after a meal via the insulin
response in a healthy person.
Failure to restore the blood sugar level in the absence of an insulin
response in a diabetic person and shifting of metabolism to fat &
protein breakdown.
Blood sugar level
rises after a
meal

Hyperglycemia

Blood sugar level is high

due to pancreatic cell
dysfunction or because of
insulin resistance

Systemic Adaptation
Health
Normal blood sugar
level restored

Disease

Hyperglycemia remains
Further disequilibria may
occur (e.g. ketoacidosis,
dehydration)
Secondary disease may
occur (in skin, eyes,
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kidneys, nerves, arteries)

C. Disease Caused by Homeostatic Overcompensation

The body adapts to stress from one disease through
its homeostatic mechanisms, sometimes
Overcompensating to cause a Secondary Disease
In this example a local (cellular) adaptive response
of cardiac muscle results in overcompensation.
Chronic
Systemic
Hypertension

Increased
workload on
left ventricle

Left ventricle
hypertrophies

Porth fig 5-2

Decreased
cardiac output

Cardiac
Arrythmia

Overcompensation
may eventually cause
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D. Homeostatic Responses Produce Clinical Manifestations

Disease

Disequilibrium

Homeostatic Responses can cause

Clinical Manifestations of a Disease
acts as

Stimulus

activates

Negative
feedback
normally
turns off
stimulus
Clinical
Manifestation
of Disease

may
cause

Compensatory
Homeostatic
Response

Receptor
Sends
message
to

Integrating Center
Sends
message
to
causes

Effector

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Compensatory Responses may Persist in Disease State giving Clinical Manifestations

Clinical Manifestation of Hemorrhage

Homeostatic responses can cause
Clinical Manifestations of a Disease.

Disease
or Injury
Causes acute
hemorrhage
Blood Volume

Hypotension

Negative
feedback

Tachycardia
Clinical Manifestation
(Sign) of Disease

Arterial
Baroreceptors

Cardiac Accelerator
Center of hind brain

Compensatory
Homeostatic Response
Increased heart activity
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Definition of Pathophysiology - 1
Pathophysiology is the Physiology of Disease
Pathophysiology is a combination of
Pathology and Physiology

Pathology is concerned mainly with studying the

characteristics of diseased organs & tissues.
Physiology is the study of normal body function.
Pathophysiology is the study of the physiological
changes associated with disease.
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Definition of Pathophysiology - 2
Disturbance to Homeostasis
Local (Cellular)

normal

Health
studies

Physiology

Systemic
Adaptation
(Homeostatic
Control System)
abnormal

Disease
Pathology Studies

diseased
organs &
tissues

Pathophysiology
combination of pathology & physiology

Studies the
physiology of
disease

Focus & Usefulness of Pathophysiology

Pathophysiology is the Physiology of Disease
Since structure and function go together pathophysiology
must deal with
Structural changes due to disease in organs, tissues and
cells
Effects these structural changes have on body functions.
Therefore Pathophysiology
Focuses on the mechanisms underlying disease but also
Provides a background for therapeutic health care
measures and practices.
Therefore Pathophysiology helps nurses understand disease
processes & how nursing interventions can restore health.

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What Pathophysiology Includes

Pathophysiology studies the disease in
the individual so includes:
Etiology
Clinical Manifestations & diagnosis
Pathogenesis & Clinical Course of disease
Treatment & Management of Disease

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Etiology
Etiology is the the study of the causes of disease

Etiological factors are factors that cause disease

Etiological factors may be Environmental or Genetic
Environmental Factors

Microorganisms, viruses, bacteria & other parasites

Physical factors, physical trauma, radiation, etc
Chemical agents, drugs, toxins
Nutritional excess or deficit
Psychological stressors (causing maladaptive responses to stress
e.g. Post Traumatic Stress Disorder)

Genetic Factors
Inherited gene or chromosomal mutations (alterations to DNA)

Diseases may be genetic, environmental or multifactorial

(caused by a combination of genetic & environmental factors).
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Etiology: Genetic & Multifactorial Disease

Genetic Factors may cause Genetic Disease or
a Genetic Predisposition to develop a disease.
Genetic Disease may be caused by a single gene defect
(e.g. cystic fibrosis, sickle cell anemia), by many genes or
by a chromosomal defect (e.g. Down syndrome).
Diseases involving a Genetic Predisposition are associated
with many genetic factors (inheritance of certain genes)
and environmental factors (lifestyle etc.) called Risk
Factors .
These diseases are therefore called Multifactorial
Diseases and include some congenital diseases, heart
disease, diabetes mellitus 2, hypertension, cancer, manic
depressive psychosis (bipolar disorder) and schizophrenia.

Most Diseases are Multifactorial

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Congenital vs Acquired Conditions

Environmental Factors may cause congenital or
acquired disease.

Congenital Conditions are present at birth.

Congenital Conditions may be genetic (e.g.
cystic fibrosis) environmental (e.g. fetal alcohol
syndrome, AIDS) or be multifactorial (e.g. cleft
lip or palate, congenital heart disease).

Acquired Conditions are caused by

environmental factors after birth, such as

trauma, infection, malnutrition, lack of oxygen.
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Infectious Diseases
Infection is the presence and multiplication of a living
organism, virus or protein in or on a host organism.
Note - not all microorganisms are detrimental to health
(a normal microflora in the body is important for
health).
Agents of infectious disease (pathogens) include

prions (infectious proteins)*

viruses ( e.g. flu, cold, AIDS)
bacteria (e.g. salmonella typhoid-TB)
rickettsiae (e.g. typhus)
chlamydiae (e.g. some STDs),
fungi (e.g. athletes foot)
animal parasites (e.g. Plasmodium, cause of malaria).

Contagious (Communicable) Diseases are infectious

diseases spread directly from person to person, e.g.
measles (rubeola- a viral disease).
*Prions cause transmissible neurogenerative diseases, e.g. Creutzfeldt-Jacob disease

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Appearance of Infectious Diseases: Four States

Preclinical: not evident but destined to progress to clinical status - can
transmit infection to others, e.g. hepatitis B, HIV but may not show
immune response yet.

Clinical: shows signs and symptoms & positive test for antibodies.
Sub-clinical: If a disease is inactive (dormant). Most cases of
Tuberculosis- TB are latent TB: immune system is activated so person
gives a positive immune response test result.

A Carrier for an infectious communicable disease is an individual who

harbours the pathogen and can infect others but may not show signs of
the disease (e.g. preclinical Hepatitis B, HIV). Individuals with Latent TB
cannot infect others so are not carriers.

Clinical Manifestation
of Disease

Clinical

becomes

Preclinical

No Clinical
Manifestation of Disease

may act as

carrier

SubClinical
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Clinical Manifestations of Disease - 1

Disease is any disruption of normal structure or
function of organ or system that is manifested by
a characteristic set of signs and symptoms.
Clinical Manifestations are various indications (signs and
symptoms) that a patient is ill.
Symptom: subjective complaint noticed only by the person
with the disorder, e.g. feeling cold, tired, pain.
Sign: manifestation noted or measured by medical observer
e.g. shivering, change in body temperature, swelling.
Both may be related to the disorder or be indicators of the
bodys compensatory mechanisms in action.
A Syndrome is a group of typical signs and symptoms
associated with a disease enabling a diagnosis to be made.
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Clinical Manifestations of Disease - 2

causes

Disease
causes

Clinical Manifestations
of Disease

Symptoms

may cause Compensatory

Homeostatic
Responses

Signs

Syndrome

Diagnosis

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Diagnosis of Disease - 1
Diagnosis is the designation of the nature of
the disease.
- Involves careful consideration of history
(symptoms) and physical examination (signs) .
- Requires determination of individual
normality by taking into account age, sex,
race, lifestyle, family history, etc.
- Often relies on information from
epidemiology and pathogenesis.
Diagnosis usually requires several pieces of
information such as laboratory tests.
26

Diagnosis of Disease - Lab Tests

Laboratory
Tests
must be
Reliable
Valid
Sensitive
Specific

Diagnosis
Reliable: test can be repeated with same result
Valid: test is a true measure of the disease
Sensitive: test gives no false -ves - delays treatment
Specific: test gives no false +ves - creates stress

DISEASE
Present
Absent
Positive
TEST
RESULT
Negative

True
Positive

False
Positive

False
Negative

True
Negative

From Porth, fig 1-1

Test Sensitivity gives %

of true +ves (persons
with disease).
Test Specificity gives %
of true -ves (those with
no disease)
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Pathogenesis: The Progression of Disease in Individuals

Diseases in individuals are studied
in Pathology and Pathophysiology.

Pathogenesis is the development of a disease in

a person, the sequence of cellular and tissue
events following contact with etiological factors
e.g. Inhalation of airborne bacteria from person with active TB causes
cell mediated immune response that walls off infection in lungs.

Pathogenesis involves studying morphological changes

- seen in a biopsy, e.g. a lesion, using histology
- seen with medical imaging e.g. X rays, CAT scans
e.g. TB nodules (granulomas) seen in lung X ray

Pathogenesis describes how the disease process

evolves and explains the clinical manifestations of the
disease.

Clinical Course of Diseases

Clinical Course is the pattern of development of a

disease in an individual: it may be Acute or Chronic.
Acute Disease is severe but self limiting, e.g.
measles (rubeola).
Chronic Disease is continuous long term e.g.
malaria, TB.
Chronic Disease is persistent - sometimes for
life, often characterized by flare ups (with
exacerbation followed by remission).
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The Study of Disease in Populations

Epidemiology is the study of Disease in Populations
Epidemiology was used originally to stop outbreaks of infectious
disease during epidemics.

Epidemiology is now used to study

- how disease spreads, how to control and eliminate it as well as
- the risk factors for multifactorial diseases including
age, diet, race, lifestyle, location.

- the Natural History of Disease.

The Natural History of Disease is its progression and projected
outcome in general without intervention (e.g. 80% of persons with
hepatitis C virus, for which there is no vaccine, tend to develop a chronic
infection).
Natural History provides data for preventative measures and prognosis.

Prognosis is the probable outcome/ prospect of recovery in

individuals and depends on epidemiological as well as personal data.30

Epidemiology
Epidemiology measures disease frequency,
through the Incidence and Prevalence of disease in
populations using statistics
Mortality (death) rates
Morbidity (presence of disease & how disease affects
persons life over long term).
Morbidity Rates include
Incidence: % of new cases in a population at risk
in a specific time
Prevalence: % of people in population who have
the disease at a given time
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