Any adults with a periodic fever syndrome?
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Anonymous
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If so, have you found a knowledgeable doctor in the area whom you see?
TIA |
Anonymous
| No one I know, but my DC had PFAPA (now outgrown, thank god), so I sympathize so much -- periodic fever syndromes are terrible. Best wishes to you, I hope you find a good care provider soon. |
Anonymous
| My daughter had it and it was cured by removing her tonsils. There isn’t really anything you can do other than this or take steroids every time it happens. We saw a doctor at Georgetown who specialized in immune deficiency. |
Anonymous
OP here. Was the Georgetown doctor strictly pediatric? This is for DD, a young adult. She was clinically diagnosed in another country with Familial Mediterranean fever, not PFAPA, so unfortunately removing her tonsils won't help. She does take colchicine, the first line medicine, and it has reduced the fevers from over 105 to the 102 to 103 range. The next step would be a biologic, one of two less common ones. We are awaiting results of her genetic tests for periodic fever mutations. |
Anonymous
| I’m following this. My 19 year old has had fever (100-101) since September 15th. We have seen infectious disease, pulmonology, and oncologist. No one can figure it out. It’s so frustrating 🙁 |
Anonymous
OP here. So sorry to hear this. I'll throw out a long shot, but I guess you are in long shot territory already. There is an uncommon syndrome associated with Familial Mediterranean Fever called protracted febrile myalgia syndrome. It is a vasculitic complication of FMF characterized by persistent fever over weeks, typically accompanied by joint or muscle aches and pains. Typically, FMF already is established in someone who gets protracted febrile myalgia syndrome, but there is literature out there where is it the first manifestation. For example: https://pubmed.ncbi.nlm.nih.gov/32232210/ (I spend a lot of time reading Turkish medical literature; Turkey leads in all the research for this.) I think it is worth investigating in your case--do not be put off if all the nonfever symptoms listed in articles don't line up with your 19 year old or if the length of fever is longer. FMF symptoms and duration can be all over the map. There is also TRAPS, formerly called Familial Hibernian Fever, another periodic fever syndrome in which typical fevers can last months. While much rarer than FMF, it seems to fit your situation better. Genetic testing for periodic fever syndromes will cover this as well. Getting genetic testing can be very expensive, and insurance companies balk and spin out agreeing to paying for it for months. Everyone on the Facebook group I have joined does self-pay through Invitae. Each panel is just $250, and I believe you can have one of their doctors order it by telehealth for $125. (We had difficulties getting a doctor to agree to go through the steps to order it through the company, but a sympathetic ENT finally agreed.) This is the best panel to ask for--it covers primary immunodeficiencies, as well all the periodic fever syndromes. https://www.invitae.com/en/physician/tests/08100/#info-panel-disorders_tested Would be interested in hearing how exploring this goes for you. |
Anonymous
| ^^I just noticed you mentioned pulmonology. FMF can cause pleuritic attacks and that can develop into pleurisy. My DD has had this for months and has had to have fluid removed from her lungs twice during this period. |
Anonymous
NP. What an incredibly helpful post—thank you! |
Anonymous
Thank you!!! He has another follow up next week. I’ll ask him to mention it to the doctor. Another possibility is COVID long haulers. But then, what’s the treatment? They are looking at auto-immune disorders again next week. It’s really frustrating because he feels crappy. |
Anonymous
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OP here--PP with 19 year old. Does he have any symptoms besides fever?
Definitely autoimmune diseases can cause fever, typically at onset, but they are generally low. My DD has spinal arthritis. According to medical literature, that is co-morbid in 10 to 15 percent of people with FMF;those patients are almost always HLA B-27 negative. The autoimmune disease most noted for fever is lupus, According to Hopkins, these fevers do not reach 101. But i would think they surely have already done an ANA on your DS. As you may be able to tell, dealing with DD's symptoms has been a years long journey and I have spent a lot of time reading up on various diseases to try to track things down. Happy to lend my skills if you have more symptoms I could look into. (PS Even weird symptoms that don't seem to mean much. My DD would complain that her heel and rib hurt, and it seemed so random. Turns out that both are signs of spinal arthritis, but you have to really search deep to find that out.) |
Anonymous
| ^^Also meant to add that periodic fever syndromes are autoinflammatory diseases, which arise from defects in the innate immune system, while autoimmune diseases are caused by problems with the acquired immune system. Most rheumatologists in the US have little experience with autoinflammatory disease, which encompasses periodic fever syndromes and Behcet's, because they are not common here. |
Anonymous
Thanks! He has the low grade fever, body aches, headache, fatigue, and a weird rash that almost looks like stretch marks. He also complains of pain in his side. This all started a few months after he had COVID. He has granulomas on his lungs, but the pulmonologist wasn’t concerned. TB has been ruled out. The infectious disease doctor thought it was a medication reaction. We stopped the medication, but the fever didn’t resolve. His blood tests have been normal. We did have one test that was a possible indicator of leukemia. But they tested again and the number was normal. I think the plan is to retest his sed rate. And look for signs of other autoimmune disorders. It has been so frustrating. |
Anonymous
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I am PP. I would think pediatrics would see a 19 year old, so don’t eliminate any of those recommendations. Unfortunately, it looks like the dr. We saw many years ago has retired. My daughter had PFAPA. We have also discovered she has 3 other rare conditions (connective tissue disease and autoimmune diseases). So I think anyone new to a pediatric fever condition needs to be aware that these kids often have multiple issues that are often very rare and it is often hard to find practitioners. It took us years to find a diagnosis for one condition. If you have a COVID long hauler, Peter Rowe at John’s Hopkins seems to be the way to go.
https://www.hopkinsmedicine.org/profiles/details/peter-rowe |
Anonymous
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For OP, are you aware of this study?
https://www.clinicaltrials.gov/ct2/show/NCT00001373?recrs=ab&cond=%22Familial+Mediterranean+fever%22&draw=4&rank=5#contacts I would reach out to the contacts on these studies and see if they see patients or if they have recommendations for practitioners. |
Anonymous
OP here: Great idea--thanks! |