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Forum Name: Rheumatology Topics

Question: Undiagnosed Joint Problems in 28 year old male


 Damini - Mon Apr 27, 2009 4:45 pm

I am trying to find help and advice regarding an ongoing undiagnosed medical condition that my brother is suffering with. The NHS seem to have stopped attempting diagnosis, and are instead looking to manage the symptoms through physiotherapy. Painkillers with antidepressant properties have been offered, but my brother declined, since his primary concern is lack of mobility, and he is not suffering with depression (beyond the expected frustration).

I will try to give you a basic outline of anything I think might be even remotely relevent:

current age 28

suspected glandular fever aged 21 in 2001

family history: cousin (fathers side) with Wegener's Granulomatosis
family history of high blood pressure
Dad had to have an operation to rectify a joint problem with his fingers (sorry, can't remember what it's called. The finger began curling into the hand, and surgery was required to fix it)

smoked aged 15-20 (less than 10 a day). Smoked cannabis within the same time frame.

Bitten multiple times by ticks as a teenager in UK

Travel to Australia, USA, Cyprus.

Tested negative for all the common STDs, multiple sclerosis, lupus - many more than that over the years, but can't recall them all.


The onset of symptoms began in 2004 (age 24) and we believe presented initially as pain, stiffness and tenderness between the shoulder blades (uncomfortable student bed at uni, so this may or may not be related). It then spread to the right hip/pelvis, which was tender, then over time became excruciatingly painful to the touch. At its worst, he rated it a 9/10 on pain scale, and my brother errs on the side of stoic. The pain became more manageable over the following months. Over the course of the year this spread to limited mobility in the left arm, inability to fully extend the elbow, and pain. The initial diagnosis was tennis elbow, despite the fact that there was little in the way of repititive motion that would usually trigger this (he used to drum, but had not drummed regularly for some years). The problem then extended to the other arm, though the effect is still not as pronounced as it is in the arm originally affected. Xrays come back clear, as did MRI.

In 2006 his eyelid began to droop and tests showed that his pupils were slightly dilated at different levels (unilateral ptosis?). Admitted to hospital for MRI, lumbar puncture and lumbar xray. - all negative. Sent home without diagnosis. Eye seemed to regain proper use of own accord.

Since then symptoms have spread to the knees, thumbs, knuckles, neck and the latest development is within the jaw. Psoriasis (or similar) on the scalp. Joints remain painful. There is not tyically any swelling of the joints, although the knee has suffered from swelling in the past (this could just be incidental, because of the way he walks). The problems seem to wax and wane, with no obvious triggers. He now finds chewing food painful, he walks with a distinct gait (from a distance he has been mistaken for an elderly relative), and when he stands up the most appalling sound can be heard as his knees grind - the closest I can come to describing it is that it is a mix between the noise of velcro being ripped apart, and the sound of popping candy being eaten. It is loud enough to be heard from the other side of a room. The left arm still cannot be fully extended.

We do not have the money to pursue this matter with private health care, though if we could find an expert I may be able to get a loan to pay for him to get a diagnosis, but ongoing private treatment would simply not be achievable. Any advice or support you can offer will be so graciously recieved. It is a heartbreaking situation, and as a sister to have a sibling wince when you hug them is just terrible. He's just so tired of pursuing this now, very worn down by the lack of diagnosis, so I'm doing what I can to help.

Sorry for the very long post but I wanted to be thorough! Please do ask if you need any more information.
 Tom Plamondon PA-C - Tue May 05, 2009 9:39 pm

User avatar Hello,
With polyarthritis with psoriasis and eye problems (bowever the eye problems were droopy eyelid and dilated pupils versus uveitis), I would be thinking psoriatic arthritis as a diagnosis.

Reiter syndrome, RA, Lyme disease are all in the differential diagnosis too.
Some blood work like RF, anti-CCP, sed rate, CRP and CBC along with xrays of the affected joint may help.

Also with a history of tick bites and knee arthritis, I would do a screening test for Lyme disease (an ELISA test and confirmed with Western Blot).

After a thorough history, physical and lab review, you should be able to start treatment either with a med like methotrexate (for RA or psoriatic arthritis) or a prolonged use of antibiotic for late stage Lyme disease.

Take care and let us know how it goes.

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