Gout Lessons from the Clinic Part 3 Save

Welcome to Gout QD Clinics. I'm doctor Sheila Rayet from The Philippines, and today's case is entitled the highs and lows of a woman with gout. The patient is a 49 year old female with chronic kidney disease for about one year who presented with bilateral knee and ankle pain and swelling. She claims to have been previously diagnosed with chronic tefascia scout by another rheumatologist a year prior to consult to my service and was prescribed febuxostat. On seeing her for the first time, I was a little skeptical about her gout diagnosis for some reasons.

She's female, relatively young, and perimenopausal, and the joint pattern and involvement was not very typical of gout, although not rare. So I had to revisit her medical history. Upon review, she had a five year history of recurrent episodic attacks of mono and oligoarthritis involving the ankles and knees, which resolve with intermittent NSAID use. A year ago, she was diagnosed with chronic kidney disease and was referred to a rheumatologist for the first time because of elevated uric acid and acute monoarthritis of the left knee resulting to arthrosynthesis rather with intra articular steroid injection and eventually received the gap the diagnosis of gout and was started on urate loren therapy. According to her, the diagnosis was made after other workups for arthritis came out negative, but she was unable to show proof of her results upon consulting with me.

However, on further review of her history, I found that she was uncompliant with the prescribed febuxostat and would just self medicate with colchicine and oral prednisone during attacks of arthritis, usually about three to four times a month. Predominant PE findings, I saw that she had moon facies and central obesity. She also had beginning atrophy of both her quadriceps muscles. Both her knees and ankles were swollen, and there were multiple subcutaneous tophi on both feet. Her laboratory results show an eGFR of 25, which was consistent with CKD, uric acid level at 6.59 milligrams per deciliter.

CBC showed mild leukocytosis. I proceeded with doing additional workups for the inflammatory arthritis, such as rheumatoid factor, anti CCP, and an ANA, but all came out negative. Due to the polyarticular nature of the attack, I gave her intravenous hydrocortisone and performed arthrocentesis of both knees. Synovial fluid analysis was consistent with inflammatory arthritis, and polarizing microscopy was negative for crystals. Now if you were the physician handling this case, what would you do?

Would you continue treating for gout, reconsider the diagnosis of gout, perform additional tests similar to what I did? I had to reeducate this patient on gout and emphasize the importance of taking maintenance, uric lowering therapy, and follow-up. I gradually resumed febuxostat when the attack subsided and shifted to oral prednisone with gradual taper. I also referred her to endocrinology service for evaluation and management of a possible concomitant Cushing's syndrome. Now for me, this is still a case of chronic sephaceous gout, but in a female, the history of elevated uric acid, the episodic pattern of the joint pains, including the presence of subcutaneous sulfate, helped me in considering the diagnosis of chronic toofacious gout, but with some kinks, including complications that arise with this disease.

Her chronic kidney disease may have been due to gouty nephropathy and chronic NSAID use, and the presence of Cushing wide features suggest that she may have been on chronic steroid use, probably at the time when her nephrologist may have advised her to stop using NSAIDs. My key takeaways from this case, number one, history and physical exam is always critical. If the need arises, always revisit the diagnosis, when things don't add up. Also, consider concomitant diagnosis. GERT levels in females rise after menopause, but this doesn't mean that gout will not affect younger women.

Other factors may have contributed to this patient's early gout. Number three, patient education is vital, especially in gout. Apart from understanding the disease, they should also understand the treatment rationale why you're giving your febuxostat as maintenance, why colchicine may be of importance as well, and why chronic NSAID use and an as as needed basis of prednisone may not be the best medication for acute gout or may not or should not be taken long term, especially if not prescribed by the physician, including potential complications if the condition is not managed properly. I believe that patients with gout should really be given an active role in the management of their condition. And lastly, particularly when chronic to face gout sets in, the rheumatologist may play a central role in multidisciplinary management.

This is Sheila Reyes from The Philippines, and I hope you've learned something from the case I shared.

A watch ptophis never resolves. Welcome to QD Gout Clinic. I'm Jack Cush with RheumNow, and that's today's case. It's about topaceous gout. A 42 year old gentleman shows up in my clinic with a history of topaceous gout.

Gout was diagnosed ten years ago, although he didn't know it was gout and really wasn't treated as gout. But most recently, about four or five months ago, he was hospitalized with bilateral septic knee arthritis and horrible gout. Well, the septic arthritis had was treated. The gout was diagnosed, and he was referred to me. So when I see this gentleman, you know, he's a mess.

He's got contractures. He's on crutches. He's on residual antibiotics. He's not on gout therapy. His story is that, he has a past history of alcohol abuse, but has been sober for a year.

No history of renal stones, but over ten years ago, he had recurrent attacks of swelling in his knees and ankles three, four, five times a year. A few times had uric acid over 10. He says, yeah, I was treated with colchicine and prednisone, and someone even gave me allopurinol, but I couldn't take it for some reason. But that was ten years ago. So when I see him, he's got a clear cut history of gout.

You know, he's got hyperuricemia with a uric acid of 9.8. And so I start him on urate lowering therapy with febuxostat forty milligrams a day. He's going through physical therapy. He's getting better. He throws away the crutches.

He's back to working as a on his feet all day long, twelve hours a day. And he's been on febuxostat forty milligrams a day for over two months. He's been on colchicine as prophylaxis zero point six milligrams a day for the same period, has had no flares, and is doing very, very good. Today, his pain is two. He has occasional heel pain, but really is doing well.

Morning stiffness less than ten minutes. No symptoms from the medication. He's alert, has a great physical exam. He has no tender joints, no swollen joints, but he has contractors. He's got a positive prayer sign, contractors of his PIPs.

He's got a few nodules, meaning tophi, on some of those PIPs. He also has bilateral knee contractures where he lacks 10 degrees of full extension. But most impressive is the amount of tophi. I counted up nine tophi that I could measure, meaning that they were bigger than a half of a, centimeter. He had a few, half centimeter, tophi on PIP joints, a pea sized one on the left elbow, a big monster one, a four by five centimeters on the right with a few satellites around it.

Right? And then he has really big ones on the Achilles tendon, sort of thickening the tendon, running the course of the tendon, sort of like buttressing it, at least three centimeters long, at least two centimeters wide. So he's got a lot of tophi. So he's been on febuxostat, and his uric acid has come down to 5.6, starting out at over nine. And that's all good.

His creatinine is one. All of his labs are normal. The question is, what do you do? Do you stick with the I'm sorry, the febuxostat at a starting dose of forty milligrams a day, or do you escalate? Or because of all the tophi, do you put them on uricase therapy?

I must say my best stories about tophis resolution were patients who went on peglodecase, and that's their charm. That's their great utility. I talked to the patient. I said, what do you wanna do? How quickly do you wanna get rid of these these nodules, these tophi?

Because if you go on a uricase drug, it could be within six months that they're all gone, more likely within twelve months. If you go on aggressive urate lowering therapy with allopurinol or fabuxtat, it could be one year, two years, three years, five years. So what do we know? We know that the label on febuxostat says that the starting dose is forty milligrams a day, and then you can escalate to eighty milligrams a day if you don't achieve a uric acid within a few weeks, A uric acid of less than six within a few weeks. And that is of course our first goal.

But this guy's got a lot of TOFI. The goal is a uric acid of less than five. So we haven't achieved that, Right? And I advise that we escalate the dose from forty to eighty milligrams, and watch what happens to and I told him I really want it to be down around four. And if we can do this for three to six months more, see where his uric acid goes, we can then evaluate what's happened to the size of the tophi and the potential need for more aggressive therapy going forward.

I want to underscore that you don't use probenecid and uricosuric therapies, because when someone with a tremendous total body urate load and TOFI, and his creatinine is 1.16. Maybe it's going the wrong way. You're at higher risk of inducing: A) Nephrolithiasis B) Gaudiatax C) Urate kidney, right? We do know from clinical trials that led to the approval of febuxostat that eighty milligrams is better than forty milligrams in not only achieving target, but also lowering the volume of TOFI. Can you go to eighty milligrams in every one?

The package insert on Fabuxyzat says that yes, you can. You gotta watch renal function because it's not advised above 40 in patients with severe renal impairment, meaning creatinine clearances of less than 30 cc's per minute, etc. In the FACT trial, when you compared febuxostat eighty one hundred twenty to allopurinol three hundred in seven sixty two patients, the TOFIS volume or area was decreased by 83% with eighty milligrams of febuxostat by sixty milligrams with the higher dose one hundred twenty febuxostat, and only 50% by allopurinol. So going to 80 seems like the right move. We do know that the EULAR guidelines do state that your target is less than five milligrams per deciliter on uric acid if you do have, multiple TOFI.

The question is what's the time frame? A watch pot never boils, watch TOFIS never seems to resolve, but you got to be on it. You got to be measuring, watching, measuring uric acid, measuring TOFIS volume. You know, I always do, you know, it's the size of a pea, it's the size of a cashew, it's the size of a walnut, or actually, you know, centimeter by millimeter measurements. But even with the most aggressive therapy, and with patient admitting that tophis size is decreasing, at one year, maybe only, 50% of TOFIS volume will be gone.

It may take three to five years. So this is a long haul plan here that the patient's got to buy into. That's a problem with males with gout. Are they good at long term therapy? This gentleman seems to be very, motivated and very interested in having a condition which he's never had treated, treated seriously so that maybe he can get back his function and prevent further damage.

That's it for this case of topaceous gout. Tune in for more gout cutie clinics.

Hello. Welcome to RheumNow, gout month. This is another QD clinic brought to you by RheumNow. My name is Eric Dine. I'm a rheumatologist from Atlantic Health, in New Jersey.

I'm gonna talk today about one of my most vexing and challenging cases that I've encountered with gout in clinical practice. This is a man who's 47 years old. He's had an extensive long history of gout beginning around the age of 12. So certainly someone who has a severe predisposition to gout. He's had topaceous gout in many of his family members, someone who I believe really has this genetic predisposition that has set him up to unfortunately have very severe, tabaceous disease for many decades now.

He's had extensive treatments. He's had very difficult difficulty in getting appropriate care, getting to target. He's had severe TOFI. The treatments and and the NSAIDs and his other treatments have led him to have renal failure, and now he has moderate CKD. So he he's been in a really tough spot, and these recurrent flares have impacted his quality of life that he's had depression and suicidal attempts, and so it's really been consuming of his life and someone who I've been really trying to find the appropriate treatment for.

He's been on alaparinol, which he's actually taken all way up to one thousand milligrams in the past. He's been on febuxostat. He was someone who sounds like a great candidate for peglodocus. He's actually received peglodocus, but, unfortunately, the second time he had the infusion, he told me that he's had his throat closing up and lost consciousness. So that's obviously a severe infusion reaction.

We've flirted with the idea of maybe even trying it in the ICU setting of of trying to see if there's a way that he could do it, but certainly that severe allergic reaction has been something that, understandably, we have been reluctant to go down that road again despite his interest for it. So we've had this this individual with very severe topaceous disease. How do you approach a case like this, particularly one that's been so impactful in his quality of life and so refractory, so resistant to treatment? Firstly, we wanna make sure that he is taking his medications as prescribed, and the mental health side has been a challenge that he's been off of his therapies for for certain periods of time before coming back and coming back to our clinic and and getting back into it. He he is currently back on the allopurinol nine hundred milligrams.

When he does that and he is adherent, we can get him towards a goal. A goal would be certainly below five for topaceous gout with maximal therapy. You know, we've gotten him kind of in the sixes. We've talked about maybe, you know, do we add on other therapies, Provenescent, adding in with febuxostat. It's very challenging when he is so refractory.

What has been most game changing for him, and I think the teaching point for me on him, this is actually an off label use, but we had started anakinra for for his flares. And and he's had severe flares that have been disabling. We've been very cautious with prednisone uses for him due to his comorbidities both affecting his cardiovascular risk and his mental health when he's on higher doses of prednisone. Anakinra has been really helpful to to treat him during severe flares. He started receiving canakinumab as a preventative dose.

So canakinumab or the brand name of Alaris is approved for abortive therapy. It's a great option if you have a flare, you get it, and you get one dose that should help you for a month, and that's a great way to stop a gout flare. He's actually been receiving it prophylactically, and that has been really helpful in preventing the inflammatory side of his gout attacks. Unfortunately, it doesn't actually bring down his uric acid. It just turns on the fire, so he still has significant symptoms related to the tophi.

The tophi are still there. They're still bothersome. He's had some surgeries to remove them. We're still working on the the urate lowering approaches for him. But it has been game changing for him that IL one inhibition has been preventing him from having these severe flares that have been disabling and causing him to have periods of immobilization.

So that has been a game changer in terms of his mental health and his mobility, his activity, that by turning down the fire sometimes can be the the the best way to help these, refractory cases. Hope that was a helpful case, and tune in to RheumNow for lots more this this month for gout.

Hi, I'm Doctor. Janet Pope. I wanted to present Acuity Clinic for our gout month at RheumNow. So this is titled It is Not Always RA, Even When It Appears to Be. So this is a patient starting with this 72 year old woman from The Philippines.

She was assessed with polyarticular inflammatory arthritis. She had lumps on her hands and elbows. Her toes were amputated from past. She said she had some nodules or lumps that probably got infected. And so she had a four foot amputation on one side.

So just thinking about that, what else should I ask? So I did ask about alcohol, zero. Diet, some fish, no shellfish, no diet soda, not much red meat. Other history, she had onset in her thirties and she's now wheelchair bound at age 72. It started in her hands, elbows, ankles, feet, and spread to her knees and eventually even her shoulders.

She was treated for rheumatoid arthritis elsewhere and it really didn't help. More recently, she's had hypertension on low dose hydrochlorothiazide twelve point five milligrams a day. And she thinks that might have made her problem worse. She was also on aspirin for cardiac protection, eighty one milligrams a day. But when she was really having pain and suffering, she was increasing to about six tabs a day.

Sometimes for a few times a week, she would do it, but not always. Family history, interesting. Two brothers, father, and all her uncles on her dad's side had severe gout. No other meds, no allergies. So when I looked at her, she looked her age.

She had obvious damage in multiple joints. Her blood pressure was normal. She was in a wheelchair, and she did have severe contractures of hands, some MCPs and PIPs, wrists, elbows, knees. She had the amputation as I described. She had obvious yellow white lumps in many areas, including on the foot at the stump of the amputation, elbows, and elsewhere.

She also unfortunately had several swollen joints. It looked like pseudorheumatoid arthritis where it was MCPs, PIPs, elbows, even shoulder effusions. One knee was swollen. Both knees had flexion contractures, and a DIP was swollen as well. So thinking about gout, what are her risk factors?

Well CKD, no. She had a normal creatinine. Diet, no. Lifestyle, no. Meds, only hydrochlorothiazide long after this started.

Family history, strong. Strong. Yes. And ethnicity. She's from The Philippines, and my teaching pearl is often my my experience.

I can't always validate this, but my experience is patients from The Philippines tend to have mild RA because they're usually not HLA DR4 positive. They might not have the double shared epitope either, and they tend to have worse gout. So why? So chat and I did a search and we asked, I asked. So patients from The Philippines have a higher prevalence of tophaceous gout and more gout in general.

And it's probably mostly a genetic predisposition. And the main thing, there's three transporters of uric acid that can be abnormal and more common in Filipino descent patients. Number one, the ABCG2, a URA transporter genes. Number two, the SLC2A9, also called GLUT9. And the third one SLC22A12 or URA T1.

And you've heard of URA transport genes because there's some drugs that are being developed to help people with gout in this area. So the variant, especially of the first one I mentioned, the variant, the ABCG2Q1 four zero one variant is particularly common in East and Southeast Asian populations. What does this mean? They often have earlier disease onset for gout in their thirties and forties, tophi, joints damage, and chronic erosify changes. And they can also have delayed diagnosis, under treatment, misdiagnosis.

Diet sometimes might affect this just like it will in other patient populations. Alcohol is usually not high amongst my patients anecdotally with gout, particularly the women from The Philippines. And also there is CKD and hypertension will worsen that. So I think that this is important to be aware of. And am I going to test the genetic variant?

No. Now I have one other briefcase. So this is again, all that glitters isn't gold. What is RA by diagnosis might not be. So this is a true case as well.

54 year old woman diagnosed with of RA a few years ago, referred for a second opinion after failing multiple CSD MADS and a TNF inhibitor. Onset in her early forties, but diagnosis a few years ago. She also had hereditary hemorrhagic telangiectasia, also known as Osser Rebel Rendo syndrome or HHT. So lots of telangiectasia and often had iron deficiency anemia. So what did I already know?

She had a low grade positive rheumatoid factor, negative CCP, erosions on x rays, at least by the report description, mild CKD, no other meds, no alcohol, and no dietary red flags. On exam, swollen joints, a slight proximal dactylitis, especially the right second finger, ankles, mid feet had lumps, and the lateral TMT on the fifth part of her foot proximally had a large fluid filled bursa, lumps at olecranon bursa, lumps on the Achilles. Working diagnosis was this this RA or gout or both. So I did the natural thing, aspirating the lump on her right TMT midfoot area. And what came out would actually look like milk.

And when we sent it to the lab knowing it'd be filled with crystals, they first wouldn't analyze it, said, are you doing an April fool's joke? Because it was in early April because it looks like milk. And we said, no. Analyze it. And for sure, was filled with tophi.

So I asked the family history. Her son had gout onset in his early twenties. And sure enough, he is now my patient too with tophaceous gout, no alcohol, and he's on treatment. And my patient was adopted, so family history of her parents, etcetera, was unknown. So let's fast forward.

She's been on high dose allopurinol. After eight years now, all tophi are gone, and she's very thankful and thinks I'm a genius. I'm not a genius. We just had to do the history physical and think about it. So learning tips from this case and the other, history and family history are really important clues.

History and physical will give clues to mimics of RA. So pseudo RA, but there should be DIP involvement. It might be asymmetrical, and the lumps under the skin are often white or yellow, whereas rheumatoid nodules might be slightly yellow. They're really never white. The distribution more lower than upper extremity, feet greater than hands and location, location, location.

Go for where the lumps are, where the joints are. And if you're not doing the right thing, do a uric acid and obviously put a needle in the aspirated joint. I think failure of other treatment, especially if they're diagnosed with another form of RRA, reexamine the X rays or do them. And if in doubt, as I say, get a needle, pull out fluid, and get it analyzed for negatively birefringent crystals. Thank you.

I hope you enjoyed these cases.