ETIOLOGY OF DISEASES
ETIOLOGY
• Is the study of the causes, origins, or reasons behind
the way that things are, or the way they function, or it
can refer to the causes themselves.
• Came form the Greek word “etio” meaning causation
and “etiology” means scientific study of something.
Etiology can be classified into:
 Intrinsic Etiology – disease came from within
and from intrinsic factors such as hemophilia,
metabolic disorders like DM, neoplastic
disorder or CA, problems in immunity such as
allergies.
 Extrinsic Etiology – disease came from outside
the body such as bacteria, viruses, fungi,
parasite, animal bites, stings, chemical,
electricity and radiation.
 Idiopathic type – unknown cause.
GENETIC DISEASE
• A disease caused by an abnormality in an individual's
genome.
NATURE OF GENETIC ABNORMALITIES
CONTRIBUTING TO HUMAN DISEASE
GENETIC ABNORMALITIES
• Affects the structure and function of proteins.
• Disrupts cellular homeostasis and contributes to
disease.
May be caused by:
I. Mutations in Protein-Coding Genes
 “Mutation” – refers to permanent changes in
the DNA; manifests in offspring.
 Those that affect germ cells are transmitted to
the progeny and may give rise to inherited
diseases.
II. Alterations in Protein-Coding Genes
 Structural variations copy number changes
(amplifications or deletions).
 Translocations – resulting in aberrant gain or
loss of protein function.
THREE MAJOR CATEGORIES OF GENETIC DISORDERS
I. First category
 Referred to as Mendelian Disorders.
 Most of these conditions are hereditary and
familial.
II. Second category
 Most common disorders of humans
 Hypertension and diabetes mellitus
 Known as “Multifactorial inheritance”; came
from genetic and environmental influences.
III. Third category
DAEN
 Disorders that are the consequence of numeric
or structural abnormalities in the
chromosomes.
HEMODYNAMIC DISORDERS
• Is a disorder in relation with blood flow circulation.
• Changes in intravascular volume, pressure, or protein
content, or alterations in endothelial function can be
the cause.
•The functions are not regulating property.
•The factors and chemicals being transported are
altered
TYPES OF HEMODYNAMIC DISORDERS
 Hypermia and congestion
 Edema
 Hemorrhage
 Hemostasis
 Thrombosis
HYPEREMIA AND CONGESTION
• Both hyperemia and congestion are the result of
excessive blood in a part of the body.
 HYPEREMIA – is an excess of blood contained
within blood vessels in a part of the body due to
an active process.
 CONGESTION – is an excess of blood contained
within blood vessels in a part of the body due to
an passive process.
*flow of blood is still in the B.V in hyperemia and
congestion while in hemorrhage, the blood escaped the
B.V already*
ACTIVE HYPEREMIA
• Active process happens when there’s an increase in
the blood supply to an organ. This is usually in response
to a greater demand for blood.
CAUSES OF ACTIVE HYPEREMIA:
 Exercise – demand of oxygen for up to 20x
 Heat
 Digestion
 Inflammation
 Menopause
 Release of a blockage; following ischemia
PASSIVE HYPEREMIA/CONGESTION
• Passive process is when blood can’t properly exit an
organ, so it builds up in the blood vessels. This type of
hyperemia is also known as congestion.
CAUSES OF PASSIVE HYPEREMIA (CONGESTION):
 Heart failure or ventricular failure.
 Deep vein thrombosis (DVT) – clot in one of the
deep veins in the lower leg, when the clot
breaks, it gets dislodge in the vein in the lung
and is now called pulmonary embolism.
  Hepatic vein thrombosis (HVT) also called
Budd-Chiari syndrome – caused by blood clot.
EDEMA
• Edema is an abnormal accumulation of fluid in the
interstitium, located beneath the skin and in the cavities
of the body, which can cause severe pain. Clinically,
edema manifests as swelling.
FOUR MAJOR CAUSES OF EDEMA
1. Increased intravascular hydrostatic pressure causes
edema; caused by venous obstruction; high pressure.
2. Decreased Intravascular Osmotic Pressure
(hypoproteinemia); no pressure in the area.
3. Increased Vascular Permeability.
4. Lymphatic Obstruction (lymphangiectasia).
GENERALIZED VS. LOCOLIZED EDEMA
• Edema is usually localized to one area.
• Infrequently it affects most or all of the body. This is
referred to as “generalized edema”. Anasarca is a term
that means general edema but in common usage, this
term is only used for fetuses.
Types of edema as either a transudate or an exudate:
TRANSUDATE – accumulation of fluid due to hydrostatic
balance between intra and extravascular components
despite vascular permeability.
 Clear fluid, low protein and low specific gravity.
EXUDATE – accumulation of fluid to due to increase
vascular permeability.
 Turbid fluid, high protein, high specific gravity,
and high cell count.
HEMORRHAGE
• An escape of blood from a ruptured blood vessel,
especially when profuse/excess.
• Defined as the extravasation of blood from vessels
• The risk of hemorrhage is increased in a wide variety
of clinical disorders collectively called hemorrhagic
diathesis.
• Hemorrhage may be manifested by different
appearances and clinical consequences.
TYPES OF HEMORRHAGE
 Hematoma – a solid swelling of clotted blood
within the tissues.
 Petechiae – are minute (1 – 2 mm in diameter)
hemorrhages into skin, mucous membranes or
serosal surfaces.
 Purpura – are slightly larger (3 – 5 mm)
hemorrhages; can result from trauma, vasculitis
and increased vascular fragility.
DAEN
 Ecchymoses – are larger (1 – 2 cm)
subcutaneous hemorrhage (colloguially called
bruises).
CLASSIFICATIONS OF HEMORRHAGE DEPENDS ON
• Nature of the vessel involved
• Timing of the hemorrhage
• Duration of the hemorrhage
• Nature of the bleeding
• Type of intervention
The clinical significance of any particular hemorrhage
depends on:
 volume of blood lost
 the rate of bleeding
THROMBOSIS
• Is the formation of a blood clot inside a blood vessel,
obstructing the flow of blood through the circulatory
system.
• Thrombi on heart valves are called vegetations.
THREE PRIMARY ABNORMALITIES THAT LEAD TO
THROMBUS FORMATION (CALLED VIRCHOW’S
TRIAD):
I. Endothelial injury
 e.g. by toxins, hypertension, inflammation,or
metabolic products
II. Abnormal blood flow/Stasis or turbulent blood flow
 e.g. due toaneurysms, atherosclerotic plaque
III. Hypercoagulability of the blood
• It is loosely defined as any alteration of the
coagulation pathways that predisposes affected persons
to thrombosis; increase in ability to coagulate and can
be divided into:
A.Primary (inherited) hypercoagulability – caused by
the mutation in the FV and prothrombin genes.
B.Secondary (acquired) hypercoagulability is seen in:
 Prolonged bed rest or immobilization
 Myocardial infarction
 Atrial fibrillation
 Tissue injury (surgery, fracture, burn)
 Cancer
 Prosthetic cardiac valves
 Disseminated intravascular coagulation
 Heparin-induced thrombocytopenia
 Antiphospholipid antibody syndrome
EMBOLISM
• An embolism is a detach intravascular solid, liquid or
gaseous mass that is carried by the blood to site of
distant from point of origin.
 Pulmonary embolism
 Systemic thromboembolism
 Fat embolism
 Amniotic fluid embolism
 Air Embolism
INFARCT
• An infarct is an area of ischemic necrosis cause by ANOREXIA NERVOSA AND BULIMIA
occlusion of vascular supply to affected tissue; ANOREXIA NERVOSA
thickening of the B.V, they become narrow. • Self-induced starvation resulting in for weight loss.
CLASSIFICSTION OF INFARCT  Amenorrhea – resulting from decreased
I. Red infarcts – blockage; deposition of RBC in the area. Gonadodtrophin Releasing Hormone/GRH.
II. White infarcts – has cheesy/white material in the • Can result to dehydration and electrolyte imbalance
area. and decreased bone density.
III. Septic infarcts Major complication: Cardiac arrhythmia and sudden
Factors that influence infarct development: death.
1. Anatomy of vascular supply BULIMIA
2. Rate of occlusion • The patient binges on food and then induces vomiting.
3. Tissue vulnerability to ischemia Can lead to:
4. Hypoxemia  Electrolyte imbalances
NUTRITIONAL DISEASES  Pulmonary aspiration of gastric contents
MALNUTRITION  Esophageal and stomach rupture.
 Primary Malnutrition – one or all of the VITAMIN DEFICIENCY
components are missing in the diet. VITAMIN A DEFICIENCY
 Secondary Malnutrition – results from nutrient • Depleted stores of Vitamin A due to infection in
malabsorption, impaired storage, excess loss, or children
increased requirements. • Poor absorption in newborns
PROTEIN-ENERGY MALNUTRITION/ PEM • In adults, malabsorption syndromes may develop
 range of clinical syndromes all resulting (celiac disease, Crohn disease, and colitis)
syndrome a dietary intake of protein and • Toxicity occurs from overuse of supplements and high
calories that is inadequate to meet the body’s vitamin A in foods such as liver.
needs. MANIFESTATION:
MARASMUS  Impaired vision (night blindness)
• Growth retardation and loss of muscle mass as a  Xerophthalmia (dry eyes)
result of catabolism and depletion of somatic protein VITAMIN C DEFICIENCY
compartment • Can lead to scurvy – a bone disease in growing
• Extremities are abnormally thin and weak children
• Multivitamin deficiency  Hemorrhages and healing defects in children
• Immune deficiency and adults
• Concurrent infections  Appears in patients undergoing peritoneal
KWASHIORKOR dialysis and hemodialysis and among food
•Protein deprivation is greater than the reduction in faddists (selected food eaters such as vegans).
total calories EXCESS:
• Sever loss of visceral protein compartment • Excreted in urine but may cause uricosuria and
• Increased fluid retention (edema) increased absorption of iron (iron overload).
• Skin lesions with hyperpigmentation, desquamation, VITAMIN D DEFICIENCY
and hypopigmentation Rickets – children
• Bands of pale and dark colored hair Osteomalacia – adults
• Enlarged fatty liver  Have weakened bones
SECONDARY PROTEIN-ENERGY MALNUTRITION CAUSES:
• Common in chronically ill or hospitalized patients  Limited exposure to sunlight
Cachexia – severe form of secondary PEM, there’s a  Heavily veiled women
progressive loss of body fat or lean body mass  Children born to mothers who have frequent
accompanied by weakness, anorexic or anemic. Caused pregnancies followed by lactation
by factors or host’s immune cells such as:  Inhabitants of northern climates with scant
 Proteolysis-inducing factor – directly stimulates sunlight
the degradation of skeletal muscle proteins.  Renal disorders
 Tumor-necrosis factor – stimulates fat  Malabsorption disorders
mobilization from lipid stores. TOXICITY

DAEN
  Hypervitaminosis – megadoses of orally
administered vitamin D
 Children: metastatic calcifications of soft tissues
(kidney)
 Adults: bone pain and hypercacalcemia
OBESITY
• Accumulation of excess adipose tissue that can impair
health.
• A state of increased body weight, due to adipose
tissue accumulation which produce adverse health
effects
METABOLIC DISEASES
• A metabolic disorder can happen when abnormal
chemical reactions in the body alter the normal
metabolic process.
NEOPLASIA
• Defined as new growth
• “An abnormal mass of tissue, the growth of which
exceeds and is uncoordinated with that of the normal
tissues and persist in the same excessive manner after
cessation of the stimuli that evoked the change.”
• Uncontrolled proliferation.
GENERAL PATHOGENESIS OF TUMORS
I. Initiation
 A carcinogen induces non-lethal mutation(s) in
a cell.
 Point at which an irreversible alteration, usually
genetic, is introduced to a target cell.
II. Promotion
 Transformed cell under the effect of promoters
begins to multiply, giving the beginning to the
clone of daughter cells.
III. Progression
 Continual accumulation of multiple mutations
results in an invasive phenotype and distant
metastasis; already have a gross appearance of
symptoms.
CLASSIFICATION OF NEOPLASIA
A. BENIGN TUMOR
Fibroma – benign tumor arising in fibrous tissues
Chondroma – benign cartilaginous tumor
Classified by:
 basis of their microscopic pattern
 basis of their macroscopic pattern
B. MALIGNANT TUMOR
• Arising in “solid” mesenchymal tissues or its
derivatives are called sarcomas.
• Commonly called Cancer; they invade and destroy the
surrounding tissue and may form metastases, and if left
DAEN
untreated or unresponsive to treatment, will prove
fatal.
 Metaplasia – abnormal change in nature.
 Dysplasia – the presence of cells of an
abnormal type within a tissue, which may
slightly a stage preceding the developing CA.
ETIOLOGY/CAUSES OF CANCER: CARCINOGENIC
AGENTS
•Three classes of carcinogenic agents:
1. Chemicals
2. Radiant Energy
3. Microbial products
INFECTIOUS DISEASES
• Is the steps or mechanisms involved in the
development of disease.
CLASSIFICATION
 PARASITIC INFECTION
 FUNGAL INFECTION
 BACTERIAL INFECTION
 VIRAL INFECTION
STEPS IN THE PATHOGENESIS OF INFECTIOUS DISEASES
 ENTRY
 ATTACHMENT
 MULTIPLICATION
 INVASION/ SPREAD OF THE PATHOGEN
 EVASION OF HOST DEFENSE
 DAMAGE TO HOST
ENVIRONMENTAL DISEASE
• The term environmental disease refers to the lesions
and disease caused by exposure to chemical or physical
agents in the ambient, workplace, and personal
environments, including disease of nutritional origins.
MECHANISMS OF TOXICITY
EXOGENOUS CHEMICALS
• Known as xenobiotics are absorbed by the body
through inhalation, ingestion, and skin contact; can
either be eliminated from the body or accumulated in
the fat, bone, brain, and other tissues.
• Xenobiotics can be converted into non-toxic products,
or be activated togenerate toxic compounds, through a
two-phase reaction process that involves the
cytochrome P-450 system.
ENVIRONMENTAL POLLUTION
• Airborne microorganisms have long been major
causes of morbidity and mortality.
• More widespread are the chemical and particulate
pollutants found in the air, especially in
industrialized nations.
OUTDOOR AIR POLLUTION
• The ambient air in industrialized nations is
contaminated with an unsavory mixture of
gaseous and particulate pollutants.
In the USA, the Environmental Protection Agency (EPA)
monitors and sets allowable upper limits for six
pollutants:
 Sulfur dioxide
 Carbon monoxide
 Ozone
 Nitrogen dioxide
 Lead
 Particulate matter

DAEN