This is one of the most common and certainly one of the most
prominent features of lupus. Patients often describe it as an
"unnatural fatigue". Its causes are not well understood. Often it
precedes the diagnosis by months or years and only when
treatment has been successfully started does the patient realise
how major a feature it had been.
The majority of lupus patients suffer at some stage from joint and
muscle pains. In many patients this presents as "pain all over". In
acute flares of lupus the symptoms are often described as being "flu-like". Unlike other rheumatic diseases such as rheumatoid
arthritis, there is often very little to see in the way of joint swelling.
It is not just the joints that are affected but the tendons and
muscles as well. In the majority of cases the joint inflammation
does not progress to permanent damage.
Fever is usually a feature of a flare of the disease. Fever is unusual
when the disease is in a quiet phase: thus in an adult or a child
known to have lupus who develops fever the possibility that a
separate diagnosis - infection - might be present always needs
A wide variety of skin rashes occur in lupus. Traditionally these are
sun-sensitive ("photosensitive") but this is not always the case.
The commonest rashes are on the cheeks (the "butterfly" rash
across the nose and cheeks), on the elbows, on the palms and
soles and on the V-neck area. The rashes vary from pinkish
discolouration through to blisters and small pinpoint "blood spots" (purpura). Most rashes in lupus have a tendency to come and go.
Hair loss is one of the most important features of active lupus. It
may be the first manifestation of the disease and is often first
noticed by the patient as hair on the pillow. In some cases hair loss
is patchy and even extreme. Fortunately, in the vast majority of
patients the hair re-grows after successful treatment, though hair
regeneration is often notoriously slow.
Headaches are a major feature of lupus. In some patients a history
of headaches or "a typical migraine" go back to the patient's teens
and pre-date the diagnosis by many, many years. There is almost
certainly a variety of causes of headaches in systemic lupus. One
specific and important cause is "sticky blood" caused by the
presence of antiphospholipid antibodies (see the fact sheets on
Lupus and Blood Disorders and Lupus and Associated Conditions).
Depression is an important feature of lupus. It is sometimes simply
attributed to being "unwell" or having tiredness and pain. However,
in many patients it is far more important than this and is a primary
feature of the disease. It sometimes responds well to management
of the lupus itself and is clearly a central feature of the lupus
process. In some patients the return of depression is a tell-tale
sign that the lupus is flaring.
As almost every organ in the body may be affected at some time,
the symptoms and signs are legion and can include irritation of the
eyes (sometimes associated with dry eyes), mouth ulcers, chest
pain (pleurisy is, for example, important in active lupus), weight loss
and ankle swelling. Some of these features will be discussed in
other fact sheets when individual organs are being reviewed.
The diagnosis of lupus is usually made on clinical grounds. The
combination of some of the features described above, especially
the skin rashes, usually but not always makes the diagnosis clear.
Unfortunately, in many patients, especially those who do not have
the classical tell-tale rashes, the diagnosis is missed. This is
particularly true for those with more "vague" symptoms such as
fatigue, depression or headaches. Often the patients are given the
wrong diagnosis such as "ME" or "atypical" multiple sclerosis.
Diagnosis is critical and any individual in whom lupus is suspected
(or for that matter the relative or offspring of any individual with
lupus in whom the diagnosis is a consideration) should have the
simple blood tests performed.
Lupus is now almost invariably diagnosed by blood tests. One of
the most typical features of lupus is the presence of particular
antibodies in the blood. Antibodies are proteins which recognise
and bind to other molecules (usually proteins) in the body. They are
usually produced in response to infection. However, instead of
getting rid of an unwanted foreign protein (which is what normal
antibodies do), the antibodies in lupus recognise components of
our own cells (usually DNA or proteins). These antibodies are
therefore called auto-antibodies. Why these auto-antibodies are
made in lupus is complex and still not fully understood. Binding of
the auto-antibody to its target can interfere with the normal
function of the target molecules, the cells containing the molecules,
or can result in the formation of complexes containing the antibody
and its target molecule (called immune complexes) which become
trapped in blood vessels and the kidney and cause inflammation
and damage. This damage is often due to the activation of a series
of proteins called complement (also normally involved in clearing
infections from the body). Thus laboratory tests in lupus are
performed in order to assess the activity of the disease (for
example the type and amount of autoantibodies and complement
in the blood), and the effects of the disease and certain drugs used
to treat lupus on blood cell counts and blood chemistry. These
involve a small amount of blood and are extremely sensitive. There
are five major blood tests carried out on the blood sample.
a. Antinuclear antibody (ANA)
ANA stands for anti-nuclear antibody. This test detects a group of
antibodies directed against components of nucleus of the cell, such
as DNA and ribonucleoproteins (RNP). The individual antibodies
include anti-DNA antibodies and the various anti-ENA antibodies
(see below). The ANA test is used as a screening test for these
auto-antibodies which may then be identified individually by other
tests. The ANA test is positive in 95% of people with lupus but only
about 5% of healthy people. It can also be positive in people with
related autoimmune conditions (sometimes called connective tissue
diseases) such as dermatomyositis, polymyositis, and systemic
sclerosis (scleroderma). It is sometimes positive in people with other
types of disease such as chronic infection or certain malignancies
(cancers). It is therefore not diagnostic of lupus, but it is important
supporting evidence when other features (symptoms, signs and
other laboratory tests) suggest lupus.
b. DNA antibodies
This is the highly specific test for lupus. For some unknown reason
the presence of antibodies against double-stranded DNA is the
hallmark of lupus. It is very specific for this disease and rarely
found in any other condition. Strongly positive anti-DNA antibody
tests provide almost total proof of the diagnosis. The level or titre
of the antibodies provides a rough guide to disease activity and is
used by physicians to monitor the ups-and-downs of the disease.
The term "extractable nuclear antigens" applies to a battery of
other antibodies which are found in lupus variants such as "Sjögren's syndrome" and "mixed connective tissue disease"– these will be discussed in a separate fact sheet.
d. Antiphospholipid antibodies
These tests are associated with the important problem of "sticky
blood". Patients with high levels of antiphospholipid antibodies
have an increased tendency to clotting both in the veins and
arteries and in pregnant women with these antibodies there is a
risk of thrombosis of the placenta leading to miscarriage. It is now
recognised that many women with recurrent miscarriages have
antiphospholipid antibodies and that successful pregnancies are
possible when the patient with "sticky blood" is treated either with
aspirin or with an anticoagulant.
This is a term used for a group of proteins in the blood which are
involved in the immune process. In active lupus the levels of
complement (usually measured as "C3" and "C4") are low and
these often provide a clue to the degree of disease activity.
In addition to the specific blood tests, the physician usually
requests a full blood count and biochemistry. The blood count in
lupus can show low white cells, low red cells and low platelet
counts. Biochemical tests are important, especially the creatinine
and urea which are raised if there has been evidence of kidney
disease. Two blood tests, the ESR and the C-reactive protein
(CRP) are used as "barometers" of disease activity.
Testing the urine is vital in lupus patients and it is the practice in
some lupus clinics to teach all patients how to test their own urine.
The simple test uses a "dip-stick" to check for protein - often the
earliest clue to the presence of kidney disease. More precise urine
tests are performed on a "MSU" (mid-stream urine - a sample of
urine sent to the laboratory for microscopic analysis). Under the
microscope, the presence of white cells, red cells or clumps of cells
- "casts" - is recorded - all possible signs of kidney disease. Finally,
all urine sent to the laboratory is tested for bacterial infection.
The lupus patient may require specialized tests to look for more
widespread organ involvement. These will include
echocardiograms, brain scan (NM), kidney scans and, if there is
evidence that the kidney is inflamed, possibly a kidney biopsy.
Having said this, for the majority of lupus patients attending routine
lupus clinics, a simple blood test and urine test are the basic
requirements. From these two analyses a broad picture of the
degree of lupus activity can be readily obtained.