Anonymous wrote: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 wrote: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 wrote:Anonymous wrote: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 🙁
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 wrote:Anonymous wrote: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 🙁
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 wrote: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 wrote: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.