A number of diseases
are due to the immune system failing to recognise the body’s
antigens as "self" and mounting an immune response to host
antigens. These "auto-immune diseases" may manifest
themselves by the presence of auto-antibodies and detection of these
can be a valuable aid to diagnosis. If an auto-immune disease is
suspected then a request for an "auto-immune screen" is
appropriate. This screen comprises:
Anti-Nuclear
Antibodies. (ANA)
High levels of ANA are
associated with connective tissue disease such as systemic lupus
erythematosus (SLE) and rheumatoid arthritis (RA). An
immunofluorescence technique is used to analyse ANA and the pattern
obtained may give a clue to the target antigen and therefore the
disease process involved (e.g a homogenous pattern is associated with
SLE). If further analysis is required then appropriate advice will be
given.
Anti-Mitochondrial
Antibodies. (AMA)
These are found in high titre in
primary biliary cirrhosis (PBC) and also in lower levels in
auto-immune hepatitis. (AIH). The two conditions are associated with
different target antigens and further tests are available to
distinguish between the two (see later – liver profile).
Anti-Smooth
Muscle Antibodies. (SMA)
In high titre these are
associated with auto-immune hepatitis but may also be found in low
titre in PBC and infection.
Anti-Gastric
Parietal Cell Antibodies. (GPCA)
These are found in ninety five
percent of people with pernicious anaemia (PA). A positive result
should be followed by an Intrinsic Factor Antibody (IFA) test which,
when positive, confirms a diagnosis of PA.
More
specific auto-antibody tests :
Double
stranded DNA antibodies. (dsDNAabs)
This test should be requested
where the ANA is positive and SLE is suspected. A positive result is
associated with SLE.
Extractable
Nuclear Antigen. (ENA)
These include antigens
designated RNP, Sm, Ro (or SS-A), La (or SS-B), Scl-70, Jo-1 and
histone each of which corresponds to a specific nuclear antigen.
Antibodies to these specific antigens are associated with particular
disease conditions (eg Ro and La with SLE or Sjogren’s syndrome and
Jo-1 with polymyositis).
Centromere
antibodies.
Anti centromere antibodies are
associated with a variant form of scleroderma termed the CREST (calcinosis,
Raynaud’s, oesophageal dysmotility, sclerodactyly, telangiectasia)
syndrome.
Liver
Profile
This is a compound test
involving three antigens; M2, LKM and SLA/LP. Antibodies to M2 are
strongly associated with PBC whilst antibodies to LKM and SLA/LP are
associated with auto-immune hepatitis.
Rheumatoid
Factor (RF)
RF is an antibody which targets
the tail portion (Fc region) of IgG with a resulting inflammatory
response. It is found in a number of auto-immune and inflammatory
diseases and also in healthy individuals, the frequency increasing
with age. In rheumatoid arthritis the RF may be positive or negative
although patients with severe disease tend to have higher levels. In
such cases there is no value in serial monitoring of RF. CRP is a
better indicator of inflammation.
Anti
Neutrophil Cytoplasmic antibody (ANCA)
These antibodies react with
cytoplasmic constituents of neutrophils. There are two major patterns
of clinical significance. C-ANCA, where the antigen is proteinase-3
(Pr 3), is strongly associated with Wegener’s Granulomatosis. P-ANCA,
where the antigen is myeloperoxidase, is less specific and may be
positive in a number of vasculitic conditions.
Glomerular
Basement Membrane (GBM) antibodies
Anti GBM antibodies are
associated with the glomerulonephritis of Goodpasture’s syndrome.
They target a collagen constituent of the glomerular basement membrane
and the resulting inflammation results in glomerular damage.
Sperm
antibodies
These are found in males and
females and may be implicated in infertility. They are also found in
males after vasectomy.