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How Can A Test Report Be Reviewed To Confirm The Diagnosis Of Autoimmune Disease Or Connective Tissue Disorder?

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Posted on Fri, 14 Apr 2023
Question: need to be answered by hematologist, in error this was posted for Ortho,
I am 59 male, diabetic, last ENA SCREENING EST IS POSITIVE, REACTIVITY WITH SPECKLED CYTOPLASMIC CONSTITUENTS HAS NEEN NOTED, THIS MAY REPRESENT ANTIBODIES TO RIBOSOMES, ENDOSOMES,LYSOSOMES, OR GW BODIES OR MITOCHONDRIA, TITRE AT 1/160. DUE TO NATURE OF TEST - MOST OF DOCTORS ARE BOTHERING TO REVIEW SUCH RESULTS. SYMPTOMS- TIRED, JOINTS- ANKLES,KNEE,BOTH SIDES OF HIPS, SPINE LOWER END, SHOULDERS BOTH SIDES, ELOWS.WEAK, FEELING CONFUSED.
doctor
Answered by Dr. Shailja Puri (1 hour later)
Brief Answer:
Symptoms suggest autoimmune/connective tissue disorder-report review needed

Detailed Answer:

Hello,

The symptoms described by you are suggestive of autoimmune disease and / or connective tissue disorder.
There are variety of disorders which come under the cover of autoimmune diseases and / or connective tissue disease.
I would like to go through the investigations that you have had till now to have better understanding of the problem.
As you have mentioned that ENA screening test is positive, I would also like to know the titres and intensity of positivity.
Kindly, upload the report that you have received from your laboratory.

Hope I have answered your query. Let me know if I can assist you further.

Thank you.

Regards,
Dr. Shailja Puri
Pathologist and Microbiologist
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
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Follow up: Dr. Shailja Puri (5 hours later)
Thanks Dr. PURI,

Titre was 1/160,. they did not mention intensity, simply mentioned ENA SCREENING EST IS POSITIVE, REACTIVITY WITH SPECKLED CYTOPLASMIC CONSTITUENTS HAS NEEN NOTED, THIS MAY REPRESENT ANTIBODIES TO RIBOSOMES, ENDOSOMES,LYSOSOMES, OR GW BODIES OR MITOCHONDRIA.
On the other hand they are showing ENA luminex testing of antigens - is negative for JO-1,RNP,Sci 70,SM ,SS-A/Ro 60, RO 52, SS-B/La,Ribo -P AND CHROMATIN,,.
CAN YOU MENTION YOUR CONTACT NUMBER AND E,MAIL . Regards.

doctor
Answered by Dr. Shailja Puri (9 hours later)
Brief Answer:
Other joint disease to be ruled out by performing additional investigations

Detailed Answer:

Hello,

Keeping in view the symptoms of pain in multiple joints of upper limb and lower limb and negativity of multiple autoimmune markers, a different pathology needs to be sought.
Absence of nuclear positivity on ENA test panel and presence of cytoplasmic positivity somewhat rules out autoimmune disorders like SLE, Sjogrens disease, etc.

I suggest you to get blood Anti CCP and HLA-B27.
In addition, a X-ray of spine can also be added.
Rheumatoid arthritis and ankylosing arthritis need to be ruled out since autoimmune markers are primarily negative.
As of now, you can take anti-inflammatory drugs for symptomatic relief of pain.

Please get back to me with these investigations for further work up.

Thanks and take care.

Regards,
Dr. Shailja Puri
Pathologist and Microbiologist
Above answer was peer-reviewed by : Dr. Nagamani Ng
doctor
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Follow up: Dr. Shailja Puri (29 hours later)
Respected Dr.Puri,
Enclosing latest paper finding on positive ENA and negative ANA --http://acrabstracts.org/abstract/clinical-evaluation-of-patients-with-positive-antibodies-to-extractable-nuclear-antigens-but-negative-ana/

Conclusion mentioned- Conclusion: ANA negative/ENA positive results, while rare, do occur. It is quite uncommon to have a diagnosis of lupus but does not exclude the possibility of connective tissue disease. This emphasizes the importance of a corresponding clinical history and exam to interpret serologies.

Background/Purpose: In the setting of a negative ANA, antibodies to extractable nuclear antigens (ENA) should be correspondingly negative, but alternative clinical scenarios occasionally arise. This study evaluated the frequency of ANA negative/ENA positive results and associated clinical information, including diagnoses.
What do you think my results goes in with research paper
---My latest MRI shows complete sacrelize of L5, CBC- low hb,, low ferritin,Low IgM many years.

doctor
Answered by Dr. Shailja Puri (1 hour later)
Brief Answer:
Sacralization of L5 is likely cause of lower back ache.

Detailed Answer:

Hello,

The two studies which you have quoted conclude that ANA negative and ENA positive is rare occurrence as in your case.
This scenario should be correlated with clinical findings since the doctor has to treat the patient and not the report.
The MRI report of lower back shows sacralzation of L5- last lumbar vertebra.
This is the probable cause of lower back ache.
Now we are left with pain in multiple bilateral joint pains in upper and lower limbs.
This is not the usual presentation of rheumatoid arthritis but it has to be ruled out.
So, I suggest you to go for Anti CCP antibodies.
RA factor may also be added since it is a cheaper test.
I had suggested previously to get HLA B 27 but I think we can wait for the RA and anti CCP antibody test before going for HLA B 27.
In addition, I would suggest pANCA, cANCA and AMA (anti mitochondrial antibodies) in addition.
A cocktail of all these antibodies is likely to clinch the diagnosis.

Hope I have answered your query. If you have more queries, I will be glad to answer.


Thanks and take care.

Regards,
Dr. Shailja Puri
Pathologist and Microbiologist
Above answer was peer-reviewed by : Dr. Prasad
doctor
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Follow up: Dr. Shailja Puri (46 minutes later)
Thanks, you are one of best,
Will try to have these- tests, we live Canadian health system, very stubbed.
What are - antibodies to ribosomes, endosomes, lysosomes?
does these connected to connected tissue disease,.- or these will be evaluated with the tests specified by you,.

Dr.Puri, In which clinic you are working , in XXXX?
doctor
Answered by Dr. Shailja Puri (17 hours later)
Brief Answer:
Ribosomes, lysosomes & lysosomes are cell organelles.

Detailed Answer:

Hello,

Ribosomes, endosomes, lysosomes are cells organelles present in the cytoplasm.
Antibodies against these organelles can result in a variety of auto-immune disease.
The antibodies that I have mentioned are directed against the cytoplasmic organelles - mitochondria which is implicated in some autoimmune diseases.
cANCA and pANCA are also raised in some of the cytoplasmic organelles.

I am a practicing pathologist in a diagnostic chain in XXXX region.

Hope I have answered your query. Let me know if I can assist you further.

Thanks and take care.

Regards,
Dr. Shailja Puri
Pathologist and Microbiologist
Above answer was peer-reviewed by : Dr. Kampana
doctor
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Follow up: Dr. Shailja Puri (1 hour later)
Thanks, Dr.Puri,
Will try to have tests you mentioned, not sure ,here doctors are very different attitude, we can not do any consult ,tests, out of public health.
doctor
Answered by Dr. Shailja Puri (18 minutes later)
Brief Answer:
Thanks, if you have more queries, I will be glad to answer.

Detailed Answer:

Hello,

Yes, you have to abide by your doctors advice. The whole process will be step by step, each investigations planned in such a way as to confirm or rule out the possible diagnosis.

Hope I have answered your query.

Thanks and take care.

Regards,
Dr. Shailja Puri
Pathologist and Microbiologist
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now

Above answer was peer-reviewed by : Dr. Vaishalee Punj
doctor
Answered by
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Dr. Shailja Puri

Pathologist and Microbiologist

Practicing since :2006

Answered : 9705 Questions

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How Can A Test Report Be Reviewed To Confirm The Diagnosis Of Autoimmune Disease Or Connective Tissue Disorder?

Brief Answer: Symptoms suggest autoimmune/connective tissue disorder-report review needed Detailed Answer: Hello, The symptoms described by you are suggestive of autoimmune disease and / or connective tissue disorder. There are variety of disorders which come under the cover of autoimmune diseases and / or connective tissue disease. I would like to go through the investigations that you have had till now to have better understanding of the problem. As you have mentioned that ENA screening test is positive, I would also like to know the titres and intensity of positivity. Kindly, upload the report that you have received from your laboratory. Hope I have answered your query. Let me know if I can assist you further. Thank you. Regards, Dr. Shailja Puri Pathologist and Microbiologist