BMS314 Practical Summaries

Practical 5 – Pigments, Infiltrates, and Storage Disorders

Today’s Objectives

1. Recognise the following disorders of excess deposition of stored materials:

Hyperbilirubinaemia Melanosis
Amyloidosis Anthracosis
Haemosiderosis Lipofuscinosis

2. Discuss the pathways by which hyperbilirubinaemia and amyloidosis

develop
3. Discuss lysosomal storage diseases
4. Discuss the causes and consequences for each of the above
Today’s Examples

Example # Normal tissue Lesion tissue

1 Slide 56 / 056 (kidney) Slide 4 / Path004

2 Slide 80 / 080 (liver) Slide 32 / Path032

3 Slide 34 / 034 (eye) Slide 31 / Path031

4-7 Images 1 - 4
Pigments, Infiltrates & Storage Disorders
Haemosiderin
Exogenous Endogenous Bilirubin
Carbon
Pigments normal or pathological Melanin
Lipofuscin

Crystals Infiltrates Amyloid

Calcium

Fat
Protein
Storage Lysosomal
Glycogen
Slide 4 (Path004) – Low Power
At low magnification, an intracellular
deposit of coarsely clumped, golden-
brown pigment can be seen.
The pigment appears to be mostly
confined to the renal tubules, but can
also be seen in the Bowman’s
capsule (observed more clearly in the
next slide).
This widespread lesion could be
described as moderate-to-severe,
intraepithelial golden-brown pigment
within renal cortical tubules and
Bowman’s capsule.
Slide 4 (Path004) – High Power
This lesion is a result of
haemosiderin accumulation, and
is called renal haemosiderosis.
Staining the tissue with Perl’s
Prussian Blue would confirm the
diagnosis (stains haemosiderin
blue).
A potential cause is systemic iron
overload, which can result from
red cell transfusions, increased
absorption in the intestine, or
genetic conditions (e.g.,
haemochromatosis).
Slide 32 (Path032) – Low Power

At low magnification, an eosinophilic

material can be observed in the
sinusoids of this liver tissue.
This lesion could be described as
diffuse and moderate-to-severe. The
eosinophilic material does not appear
to be cellular.
Slide 32 (Path032) – High Power
At high power, an amorphous
material can be observed lining the
sinusoids.
Closer inspection shows the material
is deposited in the space of Disse
(between the endothelium and the
hepatocyte).

This material is amyloid, and the

disorder is called hepatic
amyloidosis.

In addition to the liver, amyloidosis

also commonly affects organs such
as the kidney and spleen. Gross
organs appear enlarged, pale and
waxy.
Slide 31 (Path031) – Low Power
A moderate, scattered,
superficial deposition of black
pigment can be observed in the
corneal stroma beneath the
corneal epithelium.
The black pigment is melanin
and this is corneal melanosis.
If present in significant
amounts, the pigment can affect
vision. To confirm the pigment is
melanin, it can be bleached with
peroxide (melanin will be
decolourised).
Corneal melanosis such as this
can be congenital or acquired.
Some acquired cases may
progress to melanoma.
Macro Image 1
A reticulated distribution of black
discolouration can be observed throughout
the pleural surface of the lung. This is an
accumulation of carbon-based deposits
in the interstitial connective tissues of the
lobular septa.
The material is inspired and deposited in
alveoli, where alveolar macrophages
phagocytose the carbon or sooty debris.
The macrophages then either migrate up
the mucociliary escalator and are then
swallowed or expelled, or they may
migrate into the interstitial connective
tissues and end up in the septa (as shown
here).
Peroxide can be used to distinguish
between carbon deposits and melanin, as
the latter is decolourised by bleaching
whereas carbon is not.
Macro Image 2
This is jaundice or icterus, the yellow
discolouration associated with underlying
hyperbilirubinaemia.
The three main mechanisms of jaundice are:
1. Prehepatic (haemolytic) reflects an overload
of the liver’s ability to deal with bilirubin (and
hence an excess of unconjugated bilirubin in
the blood). E.g., immune-mediated
haemolytic anaemia, or red cell parasitism.
2. Intrahepatic (toxic) results from diseases of
liver parenchyma (hepatocytes) that reduce
the liver’s ability to conjugate bilirubin. E.g.,
toxic damage may cause the lysis of
hepatocytes and release mixed conjugated
and unconjugated bilirubin in the blood.
3. Post-hepatic (obstructive) may be
intrahepatic (e.g., metastatic neoplasia, liver
cirrhosis, swollen hepatocytes blocking
canaliculi, etc.) or post-hepatic (e.g.,
obstruction of the extrahepatic bile duct by
gall stones or pancreatic disease, such as
pancreatic carcinoma).
Macro Image 3 - Liver
An intracellular, light brown pigment can
be observed within hepatocytes in the liver
(indicated by the arrow). This is
lipofuscin, a pigment resulting from the
breakdown or peroxidation of fats (often
from cell membranes).
Common sites of lipofuscin accumulation
are within neurons and the myocardium,
as these cells do not divide.
Lipofuscin is generally considered to be a
“wear and tear” pigment of no
consequence, however lipofuscinosis
can be seen in conditions such as vitamin
E deficiency or as a result of diets high in
unsaturated fats. Lipofuscinosis is also
seen in a number of genetic diseases,
some of which can be serious or fatal.

*Note: to differentiate between lipofuscin and haemosiderin, remember that haemosiderin is more coarsely granular, its colour
is golden-brown (lipofuscin is a lighter brown) and haemosiderin can be stained by Perl’s Prussian Blue.
Macro Image 4 – Low Power
This is a case from a young individual
with progressively worsening
neurological signs from a young age.
At lower magnifications, no lesions are
obvious within the spinal cord. Moving to
a higher magnification shows the lesions
typical of this individual’s condition (next
slide).
Macro Image 4 – Low Power
At higher power, it is observed that the
neurons (larger cells) are distended,
pale and appear foamy as a result of
cytoplasmic vacuolation.
This appearance reflects numerous
distended lysosomes and is typical of
a lysosomal storage disease.
This example is Tay-Sachs disease,
an autosomal recessive disorder of
lysosomal hydrolases that causes the
progressive deterioration of the brain
and spinal cord.