HomeAnswersOrthopedician and Traumatologyankylosing spondylitisIs my pain in the joints related to genetic disorder?

From the reports, please let me know the disease I am suffering from.

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The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.

Medically reviewed by

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Published At September 29, 2016
Reviewed AtDecember 22, 2023

Patient's Query

Hi doctor,

I am a 25-year-old male. My height is 5 feet and 5 inches and my weight is 121 pounds I am a software engineer. For the last four months, I am having pain in both hips. To be more precise, the pain is in the front side of the joint between the hip and thigh. Around four months back, I had a fall on my right side and then, the pain started. I consulted the doctor and went for two weeks of physiotherapy along with some painkillers. The pain got reduced to 5%, but, again around two weeks back, I started feeling jam on my right side joint with severe pain and then in my left joint also. Two weeks ago, I was unable to even walk. Right now, I am feeling pain only when I sit on the floor by folding my legs and when I stretch my legs. I went for various tests such as an X-ray, MRI, HLA-B27, Mantoux, and rheumatoid profile test. I have attached the reports of all these tests. My doctor has asked me to repeat the HLA-B27 test along with the Quantiferon of TB test before starting the treatment. I am looking for a second opinion now. Exactly, what disease I have based on these reports? Is there any genetic disorder I may have, that cannot be treated permanently? What could be the root cause of such pain?

Hello,

Welcome to icliniq.com.

You are very young and should not be having the kind of hip pains that you have described. I have also gone through your reports (attachment removed to protect patient identity), which you have sent and there are some points that we have to concentrate on and discuss with you. First of all, I need to see your MRI images, which you have not sent as only the report is attached. Secondly, your ESR and CRP levels (erythrocyte sedimentation rate and C-reactive protein, respectively) are high along with HLA-B27 being positive. Also, your Mantoux test is also positive. As far as I am concerned, this tilts the discussion more in favor of ankylosing spondylitis (AS), which is an inflammatory pathology rather than tuberculosis. Because, both hips are involved, which is unlikely to be a clinical picture of TB. Also, your MRI has been reported to be having a likely infective pathology. So in my opinion, you should get your MRI looked up by some other radiologist. Also, please tell me the answers to a few questions, and on the basis of which I will be able to understand your issue better. Do you feel stiff when you get up in the morning? Apart from hips, do you also feel lower back involvement with a progressive decrease in spine movements, etc? Is there any associated difficulty in breathing, etc? Since you had an intermittent period in which you felt better with anti-inflammatory medications and intensive physical therapy, this again goes in favor of it being an inflammatory issue. Looking at your clinical picture and test reports attached, it looks like early onset of AS although I would like to personally examine you clinically before making a conclusive statement. If it is ankylosing spondylitis, then there is definitely a genetic predisposition to it. So, there is no permanent cure. But, intensive physical therapy along with medications will help you in maintaining mobility and avoiding progressively increasing stiffness. So, all inflammatory diseases have painful periods followed by periods in which the patient does not have any pain, which is a natural course of the disease. To make you understand everything better, I need to see your MRI images and doctor's prescription. Also, let me know about the management done to date and any associated history of fever, night sweating, weight loss, loss of appetite, etc.

The Probable causes

1. Genetic. 2. Infection.

Differential diagnosis

TB infection.

Patient's Query

Hi doctor,

I am so pleased with your detailed explanation. Please find the details you required for further analysis. I have attached my MRI Images. These images are in parts, so I have renamed them appropriately. I have also attached my doctor's prescription. I have consulted with two doctors till now and both have given me painkillers and gas-related medicines. I am having 5 % to 10 % pain, even after taking the medicines. In these four months, I had a fever twice, but after taking the medicines it was gone. There is no history of continuous fever or night sweats. For the last week, when the pain started again, I am feeling a bit colder than others at night time. I also have a dry cough. I did not take any medicine for this as I am already taking painkillers. I did not observe any weight loss. Yes, in the morning time, I feel stiffness in my joints and as the day passes it gets to normal. But, I feel some 10 % more stiffness throughout the day than in the morning. Since yesterday, I am feeling slight lower back pain. I think that is because of improper sleeping position or long sitting. There is no breathing difficulty. I am repeating the HLA-B27 test along with Quantiferon for the TB test and will share the reports as soon as I get them. Please clarify the following questions. I sit for 7 to 8 hours continuously due to my profession. Could this be a reason for my joint pain? If I have a genetic problem, then how have I been fine for the last 25 years? This MRI was taken when I was having severe pain and after taking the medicines it got reduced. Is there any specific reason for fluid formation between the joints?

Hello,

Welcome back to icliniq.com.

I have gone through your reports (attachment removed to protect patient identity) and there is definitely some effusion in both your hip joints indicative of some inflammatory process going on. Also, the two different blood test reports are quite contrasting. So, I will advise you for ESR, CRP, and HLA-B27 levels and if you want can get a TB Quantiferon test. But, please get it from a good laboratory, which we can rely upon and preferably get them done on an empty stomach. Your present joint pains may not be related to your profession as we are contemplating an inflammatory etiology for the same, although your activity levels and mobility may keep you fit. Not all genetic conditions have to manifest from birth. I have said that there is a genetic predisposition for AS, which we test by getting HLA-B27 levels done. But normally, AS starts to manifest in young boys from about this age group only. Lastly, as I had clearly written, if you are having AS, then there will be periods of intense pain and stiffness and other times pain-free intervals. It is a characteristic of most inflammatory joint diseases. You cannot do much of that in terms of modification of any particular activity, but intensive physical therapy, adequate calcium and vitamin D intake, and anti-inflammatory medication on an SOS basis are the management of choice. Other medications including a group called DMARDs (disease-modifying antirheumatic drugs) and biological therapy can be given after consultation with a rheumatologist as they require close monitoring. Again, I feel strongly that this should be an inflammatory and not an infective process, but your blood reports should confirm it. If there is a doubt, then a synovial biopsy can be taken from the more painful hip.

    Same symptoms don't mean you have the same problem. Consult a doctor now!

    Dr. Akshay Kumar Saxena
    Dr. Akshay Kumar Saxena

    Orthopedician and Traumatology

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