Aa
Familial Mediterranean Fever
How about Familial Mediterranean Fever? Any one else on here have this?
My son was confirmed with this diagnosis by the NIH when he was 5 now he is almost 16. Just curious if anyone else out there knows of it or maybe has it? It is listed on the NORD list as a rare disease.
Thanks!
Julians Mom
My son was confirmed with this diagnosis by the NIH when he was 5 now he is almost 16. Just curious if anyone else out there knows of it or maybe has it? It is listed on the NORD list as a rare disease.
Thanks!
Julians Mom
Hello,
I am 24, and since January I've had unexplained fevers 3 times, 2 times for 2 day and other 2 and a half days. With the fever I had extreme pain in my hip and the joints in my fingers and toes, a rash on my knee (once), severe headache, and a strange impression on my chest (between pain and burning, only when I breathe deep). I had diarrhea 2 of the 3 times. These fevers occured a couple of days after I slept poorly and worked out hard. Of course now everyone thinks it's covid, but I obviously had three negative tests. A friend of my mum's said it could be FMF, although it presents weirdly. Any insights?
I am 24, and since January I've had unexplained fevers 3 times, 2 times for 2 day and other 2 and a half days. With the fever I had extreme pain in my hip and the joints in my fingers and toes, a rash on my knee (once), severe headache, and a strange impression on my chest (between pain and burning, only when I breathe deep). I had diarrhea 2 of the 3 times. These fevers occured a couple of days after I slept poorly and worked out hard. Of course now everyone thinks it's covid, but I obviously had three negative tests. A friend of my mum's said it could be FMF, although it presents weirdly. Any insights?
I am sorry to hear of your childrens diagnosis. And I do agree with you, it's very hard to explain to people who dont know about this disease what it's like, or how it affects our children. My son, Jules is now 18, & he no longer has the fevers but still experiences leg pain, abdominal pain, vomiting,& frequent diarrhea. As for incontinence, what exactly do you mean by that? I noticed when he was younger that he sort of relapsed with his training & starting having night accidents once he began treatment with colchicine. I can say he still sometimes experiences problems with night accidents, but he doesnt usually have the problem in the daytime.
I have 2 children with Familial Mediterranean Fever. It's hard to have to explain this disease to people, no one else in our area seems to understand. We spent almost 4 years searching for an answer to our son's illness. (Our daughter is still too young to begin treatment.)
He's taking Colchicine. He still has some abdominal pain, leg pain, but no fevers. He became incontinent after beginning treatment.
Just wondering if anyone else has had a similar side effect to Colchicine?
He's taking Colchicine. He still has some abdominal pain, leg pain, but no fevers. He became incontinent after beginning treatment.
Just wondering if anyone else has had a similar side effect to Colchicine?
Hi there,
My son, 9, also has FMF. He was diagnosed between the age of 3 & 4, after 3 long years of agonizing pains, severe vomiting and diarrhea, and not to mention high fevers. I remember once his fever climbed as high as 105+ and the doctors said I was just been a "hypochondriac" mom and that I should just take my child home and let him get over the virus he had. That was the night he was admitted because he'd become so dehydrated he couldn't even sit up so a doctor a worked for admitted him and with the help of my mother's general surgeon they sat by his bedside and just watched his "spells" come and go to decide if surgery was necessary or not. It was not. The doctor was so good with my son that my son, at 3-4 years old, told him thank you for making better and asked him to be his regular doctor. He accepted and has been his doctor since. This doctor researched all he could and started him on Colchicine therapy since that time and thank goodness he has done really well. I have started noticing that this past year though he's having more flare ups and he has more abdominal pain than usual without full flares. I'm beginning to wonder if it has anything to do with hormonal changes he may be having in preparation to puberty? His doctor and his rheumatologist are not sure if there could be a correlation betweeen the two. By the way, his genetic test was negative for the gene mutations but he responded to the Colchicine therapy. He has Hispaniard, French, Spanish and German background, no Jewish background that we know of so far. Good luck and if I can be of any help, please contact me. It nice to know we're not alone.
My son, 9, also has FMF. He was diagnosed between the age of 3 & 4, after 3 long years of agonizing pains, severe vomiting and diarrhea, and not to mention high fevers. I remember once his fever climbed as high as 105+ and the doctors said I was just been a "hypochondriac" mom and that I should just take my child home and let him get over the virus he had. That was the night he was admitted because he'd become so dehydrated he couldn't even sit up so a doctor a worked for admitted him and with the help of my mother's general surgeon they sat by his bedside and just watched his "spells" come and go to decide if surgery was necessary or not. It was not. The doctor was so good with my son that my son, at 3-4 years old, told him thank you for making better and asked him to be his regular doctor. He accepted and has been his doctor since. This doctor researched all he could and started him on Colchicine therapy since that time and thank goodness he has done really well. I have started noticing that this past year though he's having more flare ups and he has more abdominal pain than usual without full flares. I'm beginning to wonder if it has anything to do with hormonal changes he may be having in preparation to puberty? His doctor and his rheumatologist are not sure if there could be a correlation betweeen the two. By the way, his genetic test was negative for the gene mutations but he responded to the Colchicine therapy. He has Hispaniard, French, Spanish and German background, no Jewish background that we know of so far. Good luck and if I can be of any help, please contact me. It nice to know we're not alone.
When my sister was 19 (in 1973) she had severe pain and went to the hospital. She had kidney stones...lots of them. Back then, they opened you up surgically to remove kidney stones. She had multiple operations to remove the stones. Eventually, they removed all of her parathyroid glands except one...they regulate the calcium in your body. They put the last parathyroid gland in her forearm, so they could get to it easier surgically in case her calcium rose again. In time it disappeared, but she keep having high calcium levels and kidney stones. In later years, they did lithotripsy to bust up some of her stones, but they just kept forming. Finally, a general surgeon found an extra parathyroid gland in her and removed it. Both of her children have had the same problem in their early 20's. However, they had parathyroidectomies before they developed a lot of kidney stones or damage to the kidneys. According to the general surgeon who performed the final operation on my sister, there was a study done on a group of people with this type of kidney stone/calcium problem, and they found out they had a common Mediterranean ancestor who passed on a gene for this. The doctor said that my sister, myself, and all my siblings would have this gene. If it expressed itself in the parent (like my sister) then all of that person's children would have the problem too. So far, my sister and her children are the only ones who have had this happen. He said since the rest of us carry the gene,not show any signs and pass it on, and it can happen later on to our descendants. It expresses itself in the late teens to early twenties. Not sure if this is correct or what it is called for sure, but this is what we were told. The thalasemia affects blood cells. Several of my mom's sisters and brothers have/had it. They have descendents who have it as well.
I havent heard that before, but I am interested to learn more. Julians illness is caused by mutations in the MEFV (Mediterranean fever) gene. Tell me more about familial hyperparathyroidism.
My family has what I think is called familial hyperparathryodism (strikes in the late teens to early twenties) and thalasemia which are both supposed to come from Mediterranean ancestors. I wonder if what you son has is connected to the same type of genetic line?
Hello imaginemelissa04,
The following facts would be of great help to you.
Familial Mediterranean fever is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). It is prominently present in the Armenian people (up to 1 in 7 affected), Sephardi Jews (and, to a much lesser extent, Ashkenazi Jews), people from Turkey, and the Arab countries.
There are seven types of attacks. 90% of all patients have their first attacks before they are 20 years old. All develop over 2-4 hours and last anytime between 6 hours and 4 days. Most attacks involve fever:
Abdominal attacks, featuring abdominal pain affecting the whole abdomen with all signs of acute abdomen (e.g. appendicitis). They occur in 95% of all patients and may lead to unnecessary laparotomy. Incomplete attacks, with local tenderness and normal blood tests, have been reported.
Joint attacks, occurring in large joints, mainly of the legs. Usually, only one joint is affected. 75% of all FMF patients experience Joint attacks.
Chest attacks with pleuritis (inflammation of the pleural lining) and pericarditis (inflammation of the pericardium). Pleuritis occurs in 40%, but pericarditis is rare.
Scrotal attacks due to inflammation of the tunica vaginalis. This occurs in up to 5% and may be mistaken for acute scrotum (i.e. testicular torsion)
Myalgia (rare in isolation)
Erysipeloid (a skin reaction on the legs, rare in isolation)
Fever without any symptoms (25%)
Attacks are self-limiting, and require analgesia and non-steroidal anti-inflammatory drugs (such as diclofenac)
Since the 1970s, colchicine, a drug otherwise mainly used in gout, has been shown to decrease attack frequency in FMF patients. The exact way in which colchicine suppresses attacks is unclear. While this agent is not without side-effects (such as abdominal pain and muscle pains), it may markedly improve quality of life in patients. The dosage is typically 1-2 mg a day. Development of amyloidosis is delayed with colchicine treatment. Interferon is being studied as a therapeutic modality
Refer: http://en.wikipedia.org/wiki/Familial_Mediterranean_fever
Best.
The following facts would be of great help to you.
Familial Mediterranean fever is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). It is prominently present in the Armenian people (up to 1 in 7 affected), Sephardi Jews (and, to a much lesser extent, Ashkenazi Jews), people from Turkey, and the Arab countries.
There are seven types of attacks. 90% of all patients have their first attacks before they are 20 years old. All develop over 2-4 hours and last anytime between 6 hours and 4 days. Most attacks involve fever:
Abdominal attacks, featuring abdominal pain affecting the whole abdomen with all signs of acute abdomen (e.g. appendicitis). They occur in 95% of all patients and may lead to unnecessary laparotomy. Incomplete attacks, with local tenderness and normal blood tests, have been reported.
Joint attacks, occurring in large joints, mainly of the legs. Usually, only one joint is affected. 75% of all FMF patients experience Joint attacks.
Chest attacks with pleuritis (inflammation of the pleural lining) and pericarditis (inflammation of the pericardium). Pleuritis occurs in 40%, but pericarditis is rare.
Scrotal attacks due to inflammation of the tunica vaginalis. This occurs in up to 5% and may be mistaken for acute scrotum (i.e. testicular torsion)
Myalgia (rare in isolation)
Erysipeloid (a skin reaction on the legs, rare in isolation)
Fever without any symptoms (25%)
Attacks are self-limiting, and require analgesia and non-steroidal anti-inflammatory drugs (such as diclofenac)
Since the 1970s, colchicine, a drug otherwise mainly used in gout, has been shown to decrease attack frequency in FMF patients. The exact way in which colchicine suppresses attacks is unclear. While this agent is not without side-effects (such as abdominal pain and muscle pains), it may markedly improve quality of life in patients. The dosage is typically 1-2 mg a day. Development of amyloidosis is delayed with colchicine treatment. Interferon is being studied as a therapeutic modality
Refer: http://en.wikipedia.org/wiki/Familial_Mediterranean_fever
Best.
Have an Answer?
You are reading content posted in the Rare Diseases Community
New study links cell phones to slightly increased cancer risk. Should you be concerned?
A list of national and international resources and hotlines to help connect you to needed health and medical services.
Herpes sores blister, then burst, scab and heal.
Herpes spreads by oral, vaginal and anal sex.
STIs are the most common cause of genital sores.
Condoms are the most effective way to prevent HIV and STDs.
