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This document discusses the risks of developing ankylosing spondylitis (AS) for children who inherit the HLA-B27 gene from a parent with AS. It notes that around 50% of children who inherit HLA-B27 will develop AS during their lifetime, but the majority (>80%) of those who inherit it do not become affected. The document advises against routinely testing all children of AS patients for HLA-B27 due to risks of unnecessary worry, misattribution of symptoms, and potential future issues with medical records and insurance/employment. Testing should only be used if a child develops symptoms that could indicate AS or a related condition.
This document discusses the risks of developing ankylosing spondylitis (AS) for children who inherit the HLA-B27 gene from a parent with AS. It notes that around 50% of children who inherit HLA-B27 will develop AS during their lifetime, but the majority (>80%) of those who inherit it do not become affected. The document advises against routinely testing all children of AS patients for HLA-B27 due to risks of unnecessary worry, misattribution of symptoms, and potential future issues with medical records and insurance/employment. Testing should only be used if a child develops symptoms that could indicate AS or a related condition.
This document discusses the risks of developing ankylosing spondylitis (AS) for children who inherit the HLA-B27 gene from a parent with AS. It notes that around 50% of children who inherit HLA-B27 will develop AS during their lifetime, but the majority (>80%) of those who inherit it do not become affected. The document advises against routinely testing all children of AS patients for HLA-B27 due to risks of unnecessary worry, misattribution of symptoms, and potential future issues with medical records and insurance/employment. Testing should only be used if a child develops symptoms that could indicate AS or a related condition.
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