AL amyloidosis -
An Introduction
International
Myeloma
Foundation (UK)
This introduction is written for people who have
been diagnosed with AL amyloidosis. It is also for
their families and friends. It provides a brief
overview of AL amyloidosis and its treatments.
If you would like a more detailed overview, IMF
(UK) produce a guide called 'AL amyloidosis -
your essential guide'. If you would like to know
more about any aspect of AL amyloidosis and its
treatment please call the IMF (UK) Helpline on
0800 980 3332.This is a free and confidential
service available from 9am to 5pm, Monday to
Friday. It is manned by trained nurses and
supported by medical and scientific advisors.
Contents
What is amyloidosis?
1
What is AL amyloidosis?
1
What causes AL amyloidosis?
1
AL amyloidosis and myeloma
2
What are the signs and symptoms
of AL amloidosis?
2
How is it diagnosed?
3
Treatment.
3
Treatment to control AL amyloidosis.
3
-
chemotherapy.
4
-
high-dose therapy and
stem cell transplantation.
4
-
organ transplantation.
5
Alleviating the symptoms of AL
amyloidosis.
5
Specialist Centres.
6
The future.
6
IMF (UK).
7
IMF (UK) services for patients
and their families.
7
Information.
7
Support.
7
What is amyloidosis?
The term amyloidosis describes conditions in
which protein is deposited in an abnormal form, as
amyloid fibres (fibrils), in the body's tissues and
organs. Amyloid fibrils can gradually build up in
tissues and organs because the body can only
break them down very slowly.They can therefore
disrupt the structure and function of the affected
tissues and organs.
What is AL amyloidosis?
AL amyloidosis is one form of amyloidosis arising
from abnormal plasma cells. Plasma cells are found
in the bone marrow and protect the body against
viruses and infections by producing antibodies. In
AL amyloidosis a single population (or clone) of
plasma cells grows excessively and produces
abnormal proteins which are deposited as amyloid
fibrils in tissues and organs.The heart, liver, kidneys,
spleen, intestine, skin and the nervous system can
be affected. AL amyloidosis does not affect the
brain.
It is a rare disease, with approximately 600 new
cases in the UK each year. It usually affects people
between the ages of 50 and 70 years, but can
occur in younger adults.
What causes AL amyloidosis?
The causes of AL amyloidosis are not known. It is
not contagious or known to be inherited. AL
amyloidosis can be related to myeloma, which is a
bone marrow cancer.
1
www.myeloma.org.uk
AL amyloidosis and myeloma
Myeloma is a type of cancer affecting the plasma
cells, which are normally found in bone marrow. In
myeloma, one plasma cell becomes defective and
multiplies rapidly to produce too many plasma
cells.The abnormal cells produce an abnormal
antibody known as paraprotein, which can be
measured in blood and/or urine samples.
About 10 - 15% of patients who have been
diagnosed with myeloma have co-existing AL
amyloidosis, or will go on to develop it. It is rare
for people with AL amyloidosis to go on to
develop myeloma.
What are the signs and symptoms of AL
amyloidosis?
Common signs and symptoms include:
Tiredness.
Weakness.
Weight loss.
Loss of appetite.
More specific signs and symptoms, which depend
on where the amyloid fibrils have built up, include:
Swollen ankles.
Shortness of breath.
Tingling fingers or numbness in the
extremities.
Diarrhoea.
Feeling of fullness, even after a small meal.
Bruising easily.
A stiff, sore tongue.
Freephone Helpline: 0800 980 3332
2
How is it diagnosed?
There are a number of tests to confirm the
diagnosis and investigate the extent of the disease.
These include:
Organ tissue biopsies (to check for
presence of amyloid fibril deposits).
Bone marrow samples (to check for
presence of abnormal plasma cells).
Blood and urine tests (to check for
evidence of abnormal proteins).
SAP scans (a scan which can detect
amyloid fibril deposits in the body).
Echocardiograms and ECGs (to check
function of the heart).
Treatment
Treatment has two objectives:
To treat the abnormal plasma cells, in
order to reduce or eliminate their
production of abnormal amyloid protein
and amyloid fibril formation.This may
allow affected tissues and organs to
recover function.
To alleviate the symptoms caused by the
build up of amyloid fibrils in particular
tissues and organs.
The aim of treatment is to make the patient feel
better, prevent further tissue and organ damage
and improve function.The disease may be
controlled, slowed down or halted temporarily.
3
www.myeloma.org.uk
Treating the abnormal plasma cells
Chemotherapy
Cytotoxic chemotherapy drugs are given
to destroy the amyloid- producing plasma
cells.The drugs can be given in cycles by
injections or tablets.There are many
different combinations and doses of drugs
allowing a best course of treatment for
each individual patient. Normally, lower
doses of chemotherapy will take longer to
have an effect on the disease, but side
effects will not be as great. Common side
effects of chemotherapy include nausea,
infections, sore mouth and hair loss. Less
common side effects include numbness or
tingling in the hands and feet, and
sometimes fertility can be affected.
High dose therapy and stem cell
transplantation
High dose therapy followed by autologous
stem cell transplantation is a form of
chemotherapy treatment that works well
for some patients. It involves giving high
doses of chemotherapy to destroy the
bone marrow, followed by a transfusion of
the patient's own stem cells which have
been previously collected and stored.
These stem cells repopulate the bone
marrow and re-start production of blood
cells.This high-dose treatment carries
more risks than lower doses of
chemotherapy, so its suitability will depend
on factors such as the patient's age and
extent of their disease. Stem cell
transplant using a matched donor
(allogeneic transplant) carries even higher
risks and its use in the treatment of AL
amyloidosis is not yet established.
Freephone Helpline: 0800 980 3332
4
Organ transplantation
If an organ is severely compromised,
slowing the production of amyloid may
not be sufficient in itself. When damage to
an organ is considered to be permanent, a
transplant may be possible. Kidney and
liver transplants have taken place in a
number of cases, but further treatment to
stop the abnormal plasma cells affecting
the new organ has also been required.
Alleviating the symptoms of AL amyloidosis
Supportive treatments may be needed to alleviate
specific symptoms and these will vary from patient
to patient.They are commonly used alongside, and
often after, completion of the treatments to
eliminate the underlying abnormal plasma cells.
Supportive treatments include:
Special diets (if kidneys or heart are
affected).
Diuretic tablets (to relieve water
retention).
Drugs to treat low blood pressure.
Drugs to control diarrhoea.
Pain management.
Renal dialysis (if kidney function is very
poor).
5
www.myeloma.org.uk
Specialist Centres
In the UK there is one specialist amyloid centre,
the National Centre for Amyloidosis at the Royal
Free Hospital in London. Many tests are carried
out here that are specific to amyloidosis and may
not be available elsewhere. A doctor can arrange
for a patient to be referred to this centre where,
after discussion with both the patient and his/her
own doctor, the most appropriate treatment can
be decided upon.The centre can also advise
doctors on the management of their patients.
Patients can be followed up at regular intervals at
this centre, but the patient's own doctor will see
the patient more frequently and administer and
monitor any treatment locally.
The future
Experimental treatments (such as allogeneic
transplants) aim at curing the disease, although
none has yet been proven. At present all
treatment aims to eliminate the abnormal plasma
cell. Early reports show that thalidomide, a drug
known to be effective in the treatment of
myeloma, may have an effect, although further
study is needed. It is hoped that eventually
treatments will emerge that are able to promote
the breakdown of amyloid protein and fibrils by
the body, and much research continues in this
area.
Freephone Helpline: 0800 980 3332
6
IMF (UK) Freephone Helpline
Helpline: 0800 980 3332 (UK only)
Lines are open Monday-Friday, 9am-5pm and
an answerphone is in operation at all other
times. If you are greeted by the answerphone,
please leave your name and telephone
number and we will contact you as soon as
possible.
Our telephone lines do not use Caller Display
Equipment and we use Permanent Number
Withhold on all outgoing calls.
7
www.myeloma.org.uk
This booklet is one of a range of publcations
covering many aspects of living with AL
amyloidosis. Please contact the IMF (UK) for
more details.
"Dedicated to improving the quality of life of
myeloma patients while working towards
prevention and a cure".
www.myeloma.org.uk
Helpline 0800 980 3332
Published by the International Myeloma Foundation (UK)
Publication date: November 2003
Review date: November 2004
Author: Monica Morris RGN,
Patient Information and Support Specialist IMF (UK)
IMF (UK), 2nd Floor, 31 York Place
Edinburgh EH1 3HP
Telephone: +44 (0) 131 557 3332
Myeloma Freephone Helpline: 0800 980 3332
Fax: +44 (0) 131 556 9720
Email:TheIMF@myeloma.org.uk
Website: www.myeloma.org.uk
Charity No. SC 026116
Company No. 190563