Dystrophias
Intracellular and extracellular
accumulation of proteins, lipids
and carbohydrates.
Storage diseases. Depositions.
Pathology of endogenous
pigments.
As.prof. Golovata Tatiana
Dystrophy (from the Greek.
Dys-disorders and trophonutrition) - a quantitative and
qualitative structural changes in
the cells and / or intercellular
substance of organs and tissues
caused by violation of trophic.
Morphological essence dystrophy
Increase or decrease to-those of any
matter contained in the body normally
 Changing the quality, and physical and
chemical properties of substances
 The appearance of ordinary matter in
unusual places
 The appearance and accumulation of new
substances that are not inherent in the
normal body

Causes of abnormal
accumulation of metabolic
products
1. Pathology of cells-genetic or
acquired defects of specific enzymes
involved in the metabolism
 2. Dysfunction of transport
systems (disorders of blood
circulation-hypoxia)
 3. Violation endocrine and neural
regulation of trophic.

Mechanisms of abnormal
accumulation of metabolic
products
Infiltration – ingestion of indigestible materials
and accumulation of exogenous materials in
cells.
 Mutations causing alterations in protein folding
and transport.
 Perverse synthesis
 Decomposition - decay lipoprotein
complexes.

Classification of pathological
accumulation of metabolic products
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According predominance violation of a particular type of exchange:
a) protein,
b) fat,
c) hydrocarbons
d) mineral
For localization of the pathological process:
a) intracellular (parenchymal)
b) extracellular (stromal-vascular);
c) mixed
Depending on the influence of genetic factors:
a) congenital
b) acquired.
For prevalence of the process:
a) general,
b) local.
Intracellular Accumulations of
proteins
Accumulatios of proteins appear as rounded,
eosinophilic droplets by denaturation and
coagulation or vacuoles by hydration
Intracellular Accumulations of
proteins

Pink hyaline droplets
in the renal tubular
epithelium
Reabsorption droplets in
proximal renal tubules
are seen in renal
diseases
associated
with protein loss in
the urine.
The process is reversible
if
the
proteinuria
diminishes,
the
protein droplets are
metamolized
and
disappear.
Intracellular Accumulations of
proteins – hydropic swelling

Caused hydration
of hyaline droplets
by different toxic
action
Intracellular Accumulations of proteins keratinization disorders

Keratinization disorders refers
to a large and heterogeneous
group
of
disorders
of
cornification, the majority of
which
are
genetically
determined.
Actually,
the
ichthyoses
constitute
the
predominant
portion
of
keratinisation disorders. The
word « ichthyosis » derives
from the Greek word «
ichthys » which means fish.
In most cases, the skin
abnormalities appear since
birth.
Squamous cell carcinoma skin whith
keratinization
Keratin pearl (P) or eddy in squamous cell
carcinoma
Extracellular Accumulations of proteins
– degenerations of connective tissue
 Mucoid
swelling
 Fibrinoid swelling
 Hyalinosis
Extracellular Accumulations of proteins
– degenerations of connective tissue
 Mucoid
swelling
is
a
stromal
dysproteinosis
with
superficial
disorganization of protein in connective
tissues with accumulation of basic
substance glycoaminoglycan and their
redistribution which cause the increasing
of vessels permeability
Mucoid


Occasionally connective
tissue appears to secret
mucin
Characterised by
metachromasia
Fibrinoid swelling

It
is
a
stromal
vascular
dystrophy
defined by destruction
of collagen fibers and
basic substances with
plasmorrhagia
and
formation of protein
and
polysaccharide
complexes
on
fibrinoid substance
Hyaline
It is a stromal vascular dysproteinosis
defined by alteration in the extracellular
space which becomes homogenous,
glossy, pink appearance in sections
stained with haematoxylin and eosin
Hyaline

The term “hyaline”
is used in many
situations where
degeneration is not
a feature, e.g.
glossy capsule of
spleen, dense
cartilage like valve
Intracellular accumulation of
lipids – fatty change

This is accumulation of fat in non-fatty
tissues, especially the parenchymatous
organs, skeletal muscles and the heart,
which have a high metabolic rate.
Fatty change
 Development
mechanism:
Causative factor: cell poisons
(bacterial, chemical e.g. alcohol) and
clinical disorders (anaemia, cardiac
failure, diabetes mellitus) → Reduced
cellular enzyme activity → Inability to
metabolise fat → Accumulation of fat in
cells
Fatty change
In normal non-fatty tissues
the intracellular fat is not
visible by light microscopy
using
conventional
fat
stains.
In
fatty
change,
the
accumulated
fat
is
visualised using
frozen
sections, stained by Sudan
III and indicated by bright
orange vacuoles
In routine paraffin sections
the fat has been dissolved
and is indicated by clear
vacuoles
Fatty change

For example
Fatty liver – organ is
enlargement
and
yellow
–
“goose
liver”
A heart on the inside of
which
stripes
of
yellowish or white,
tiger skin is simulated
– “tiger heart”.
Effect
of
fatty
myocardium is cardiac
failure
Obesity


Obesity is defined as a
body mass index equal to
or greater than 30.
The main cause of obesity
is increased intake of
food.
Manifestations:
increased of adipose tissue
in the fat depots
Obesity

Obesity
must
be
distinguished
from
intra-cellular
fatty
change describe above.
Gross degrees of obesity
lead
to
increased
adipose
tissue
in
abnormal sites, e.g.
between
myocardial
fibres.
Metabolic disturbances of
cholesterol

Accumulation
of
cholesterol
manifested
histologically by intra-cellular vacuoles, are seen
in
several
pathologic
processes,
e.g.
atherosclerosis, xanthomas.
STORAGE DISEASES - INBORN ERRORS OF
METABOLISM
Inborn errors of metabolism are single-gene defects resulting in
the absence or deficiency of an enzyme or the synthesis of a
defective protein.
Inborn errors of metabolism have four possible
consequences:
 accumulation of an intermediate metabolite (e.g. homogentisic
acid in alkaptonuria)
 deficiency of the ultimate product of metabolism (e.g. melanin
in albinos)
 synthesis of an abnormal and less effective end product (e.g.
haemoglobin S in sickle cell anaemia)
 failure of transport of the abnormal synthesised product (e.g.
α1-antitrypsin deficiency).
Disorders of carbohydrate metabolism

The commonest disorder
of
carbohydrate
metabolism
with
an
inherited component in
its aetiology is diabetes
mellitus.
Histological manifestations:


reduce glycogen content in
traditional depot, e.g. in the
liver
accumulation
in
abnormal
places, e.g. in the renal
tubular epithelium
TISSUE DEPOSITIONS - Amyloid

In this condition, a 'waxy' substance
composed essentially of an abnormal protein is
deposited in the extracellular tissues,
particularly around the supporting fibres of
blood vessels and basement membranes.
Amyloid is resistant to degradation and
removal by the usual process so that the
deposition progresses relentlessly.
Detection
of Amyloid


Amyloidosis of the kidney.
sections stained Congo Red
Amyloidosis of the adrenal.
sections stained Congo Red
CLASSIFICATION
of Amiloidosis
Pathological effects
Calcification - Abnormal deposits of calcium salts
occur in two circumstances: dystrophic and
metastatic.
Dystrophic calcification occurs
in tissue already affected by
disease. Common examples
are:
 atheromatous plaques
 calcification of mitral valve
ring
 old tuberculous lesions
 fat necrosis
 old thrombi
 necrotic tissue
 dead parasites
Calcification
Metastatic
calcification is much
less
common
than
dystrophic calcification
and occurs as a result
of
hypercalcaemia.
Frequent causes are:
 hyperparathyroidism

Pathology of endogenous pigments.
Melanin pigmentation

Local melanin pigmentation
This is seen in tumor derived from
the melanocytes of the skin
and choroid cost of the eye
Pathology of endogenous pigments.
Melanin pigmentation


Generalised
melanin
pigmentation (melanosis)
is a characteristic of this
condition which involves the
destruction of the adrenals,
adrenal thus remuving the
inhibitory adrenal control.
Pigmentation is seen on
exposed skin surfaces, and
those
subject
to
local
irritation including squamous
mucous surfaces such as the
mouth.
Pathology of endogenous pigments.
Iron-containing pigment - haemosiderin
It is iron derived from red cells
breakdown is held in the spleen,
liver and marrow. When the amount
of iron within the cells becomes
excessive and overloads the ferritin
system, it is deposited in a brown
granular form – haemosiderin.
This occurs in two situations:
1.
Local breakdown of red cells in
tissues e.g. in internal haemorrhage.
2.
Visceral siderosis – this is seen in
the liver, spleen in cases of
haemolytic anaemia, and in blood
transfusion. Iron is found in the liver
parenchyma. Easily demonstrated
by the Prussian Blue reaction.

Pathology of endogenous pigments.
Lipofuscin

This is yellowish brown
pigment having a high
lipid content, often
found in the atrophied
cells of old age – “wear
and tear” pigment. It is
particularly common in
the heart muscle around
nucleus.
Pathology of endogenous pigments.
Iron-free pigment - Bilirubin

1.
2.
3.
When the bilirubin content
of the serum rises above 34
μmol/l, jaundice appears.
This can be brought about by
an abnormality in one of
main ways:
Post - hepatic (obstructive)
jaundice
Pre- hepatic jaundice
Hepato-cellular jaundice
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