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1 CHILD ATTITUDE JOWARD JLLNESS SCALE


H
LA-B27 gene if he or she is I Western European extraction) may ask, 'what is the risk I my children
developing it, and can anything be done o prevent this?' Children who inherit HLA-B27 from the B27 positive parent
with AS (and on average 50% will inherit the B27 gene) carry a risk I up o 1 in 4 I developing the disease themselves
during their lifetime. Thus, most children with the B27 gene do not develop the disease, and the 50% I children who
lack the gene carry no virtually increased risk unless genes for other diseases that also predispose o AS (such as
psoriasis and inflammaory bowel disease) are present in the family. If the person with AS does not possess HLA-B27 (a
<10% chance if he or she is I Western European extraction), then the risk I disease o ccurrence among the children
may not be increased at all, unless genes for other diseases that also predispose o AS (as mentioned above) are
present in the family. The person with AS, who has a > 90% chance I possessing the HLA-B27 gene, may ask, 'Should I
have all my children tested for the HLA-B27?' The answer is no, because among the 50% I the children who are
expected o be positive, an overwhelming majority (> 80%) remain unaffected during their lifetime. Moreoever, the
parents, and the healthcare providers may get 'HLA-B27-itis': knowing that the child has HLA-B27, the parents and the
healthcare providers can worry unnecessarily; and sympoms unrelated o AS may be wrongly attributed o the fact that
the child has inherited the gene. Thus the child may get a wrong diagnostic label I AS, even though he or she is an
unaffected individual who happens o possess a normal gene called HLA-B27. Even a child who remains otally healthy
may suffer indirectly in future if the information about the HLA-B27 test result enters their medical records, and thus
becomes available o health insurance agencies, or future potential employers, who may misuse such information. If
a child I an AS parent develops sympoms or signs that you suspect may be due o AS or another HLA-B27
associated disease, you should point out all the child's sympoms o their docors, who should preferably be a pediatric
rheumaologist. When it is appropriate the docor can utilize HLA-B27 typing as an aid o diagnosis. HLA-B27 testing
in disease diagnosis AS can almost always be readily diagnosed on the basis I hisory, physical examination and X-
ray findings, and therefore HLA-B27 typing is not necessary for disease diagnosis. A knowledge I the presence I
HLA-B27 can sometimes be valuable as an aid o diagnosis, although the prevalence I HLAB27 (Table 3) and the
strength I its association with AS vary markedly in different ethnic and racial groups. For example, only 50% I African-
American patients with AS possess HLA-B27, and it is close o 80% among AS patients from Mediterranean countries.
Thus, AS and related diseases can also occur in people who do not have HLA-B27. Therefore, a negative test result
for B27 does not, in itself, completely exclude the presence I the disease. Moreover, a positive test result in itself
does not mean that someone has the disease, because the HLA-B27 gene is present in a significant percentage I
the healthy general population. However, the test can be useful for a docor who understands the principles I
probability reasoning and uses it only in a oss-up clinical situation. In other words, the docor may think that there is
a 40-60% likelihood that the patient has AS, and the sacroiliac joint X-rays are either normal or show equivocal (not very
definite) changes. Moreover, its clinical usefulness is influenced by the patient's racial and ethnic background. Typing
for HLA-B27 should not be considered a routine, diagnostic, confirmaory, or screening test for AS in patients with back
pain in the general population. Research on HLA-B27 and related

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