Familial Mediterrean Fever similar to Fibro/Cfids

Discussion in 'Fibromyalgia Main Forum' started by sues1, Apr 23, 2006.

  1. sues1

    sues1 New Member


    I just found a site while surfing again....It has probably been talked about before? For anyone who has not read this
    before (Me included) I copied and pasted it here, more is on that site. Susan
    ====================================== as she wrote:

    Familial Mediterrean Fever
    March 02, 1999
    Just a few weeks ago I was diagnosed, with Familial Mediterrean Fever, a disease which I believe that I have had since I was about 8 years old. My doctors and some of my family thought that I was a hypochondriac because of the many and varied symptoms that I presented. I was told ‘it is all in your head.’ I was diagnosed previously and erroneously, it turns out, with fibromyalgia, rheumatoid arthritis, chronic recurrent chemical depression, sleep apnea, sleep disorder with myoclonus, and Restless Leg Syndrome, colitis, spastic colon, gallbladder inflammation, appendicitis, possible kidney stones with their concurrent problems of vomiting and diahrrea, and so many other things that I can’t even remember them. I had chronic respiratory problems, sinus infections, allergies and asthma. I had even looked into Chronic Fatigue Syndrome as a possible cause of my problems. All of these things didn’t happen at once, but the diagnoses kept being added and they grew worse as I grew older. Sound like I was a wreck? I was, but I am beginning to improve. It is like a miracle.

    I came across the diagnosis of Familial Mediterranean Fever through my genealogical research and that story is told in another paper. Suffice it to say, that I diagnosed myself, told my doctor about it, and asked for the medicine colchicine as a trial. My doctor did not think that I had FMF, even though I had the ancestry, but he was willing to give me a trial prescription. Two hours after I took the first dose, I knew it was going to work.

    At the point when I took the medicine, I could not rise from a seated position without pushing or pulling myself up with my hands. My hands, arms, and shoulders in particular were in constant pain, both in the muscles and the joints. I could not hold a cup of coffee or a glass of water without using two hands, no thumbs to hold them. I moaned and groaned as I came down the steps in the morning, turned sideways and taking one step at a time while holding on to the rail with my finger tips from underneath the railing. My brain was foggy; I could not think clearly, nor concentrate for longer than a few minutes. I had trouble doing simple arithmetic in order to balance a checkbook. MY life was miserable. I was very unhappy and I hurt so much at times that I was sure I could not stand it. Stress seemed to make it more intolerable.

    The medicine colchicine, which I started taking in 0.06mg daily doses,once daily and now take twice a day, and which the Merck Manual says can be taken in that amount 3 times a day, is made from a plant called the Autumn Crocus which grows in the Mediterranean. It is not harmful taken in small doses for a short time even if you do NOT have the disease. It needs to be carefully monitored by your doctor and is available only through prescription.

    I cannot claim to diagnose or prescribe as I am not a doctor. I am a genealogist with a scientific bent. I can tell you my story and tell you what I think, however.
  2. srh

    srh New Member

    What ancestry are you from? It's worth a try.

    Thanks for the info.
  3. sues1

    sues1 New Member

    mmmmmmmm.....okay.......thanks for the reply Susan
    [This Message was Edited on 04/23/2006]
  4. sues1

    sues1 New Member

    I am basically English and German..Irish etc.

    I know that the article I posted was not likely for my ancestry, from what I read. Plus I do not think this is my problem.....but I like to "throw" things out there. Might help someone......Susan
  5. srh

    srh New Member

    I know what you mean. If we find something that's even close, our minds finally work!! Or at least mine does when I see something.

    I went to the CDC website. To me it sounds a little diff than what I've got. But like I said in my other post, who knows? No one does.

    We almost have to look and research what we see because there aren't alot of Dr.'s out there that know about any of it.
  6. lea

    lea Member

    can you please list the exact name of the test?
    thank you
  7. sues1

    sues1 New Member

    The following information is copied from the paper that the National Organization of Rare Diseases(NORD) sent to me. I have added a few comments in parentheses with the words “I,my,mine” included. If the parenthesis does not include these words then the parentheses are NORDs.

    Other names that FMF may be called are:

    Armenian Syndrome
    Benign Paroxysmal Peritonitis
    Familial Paroxysmal Polyserositis
    Periodic Amyloid Syndrome
    Periodic Peritonitis Syndrome
    Polyserositis, Recurrent
    Reimann Periodic Disease
    Reimann’s Syndrome
    Siegel-Cattan-Mamou Syndrome
    Familial Mediterranean Fever (FMF) is a rare (I am not so sure about the rare.) inflammatory disease characterized by recurrent attacks of fever and acute inflammation of the membranes that line the abdominal cavity (peritonitis) and/or the lungs (pleuritis); pain and swelling of the joints (arthritis); and/or in some cases, skin rashes. In addition, some affected individuals may experience a serious complication known as amyloidosis, which is characterized by abnormal accumulation of a fatty-like substance (amyloid in various parts of the body. If amyloid accumulates in the kidneys (renal amyloidosis), kidney function may be impaired and life-threatening complications may occur. In most cases, Familial Mediterranean Fever is thought to be inherited as an autosomal recessive genetic trait. Please click here to read more about Nancy's experience with FMF.

    The symptoms of Familial Mediterranean Fever, which may be recurring, typically include fever, severe abdominal pain, and/or chest pain. This pain occurs due to inflammation of the delicate membranes that line the abdomen and lungs (polyserositis). The abdominal pain, which usually occurs in the lower right quadrant, may be acute and severe; it is frequently confused with acute appendicitis. The attacks generally last up to 24 hours but may continue for 4 days. (My attacks were also confused with gallbladder attacks (inflammation and gallstones), colitis, spastic colon, bladder spasms and possible kidney stones, as well as appendicitis. I had numerous upper respiratory problems, including asthma and allergies, and infections.) Please click here to see a chart comparing FMF symptoms with Chronic Fatigue Syndrome and Fibromyalgia symptoms.

    Approximately 75 percent of people with Familial Mediterranean Fever have episodes of joint pain (arthritis). The pain, which may be accompanied by swelling, may be severe and limit the range of motion in the affected joints. Attacks of arthritis usually subside within 7 days and joint function is restored. However, in some affected individuals, these episodes can also continue for several weeks or months. (Mine have been periodic for many years.) Some individuals with Familial Mediterranean Fever have painful swollen red (erythematous) skin lesions (pyoderma) on the lower legs.

    Individuals with FMF may also experience depression and other psychological difficultiies.(I have suffered bouts of recurrent chronic chemical depression for years,worsening as I becane older.)

    Some individuals with the disorder may experience a serious complication known as amyloidosis. In this condition, a fatty-like substance (amyloid) accumulates in various parts of the body. If amyloid accumulates in the kidneys (renal amyloidosis), kidney function may be impaired and life-threatening complicatins may occur. Some affected individuals may experience intestinal obstruction (My grandfather died of an intestinal obstruction.) and inflammation of the membranes that line the brain (meningitis) as complications of amyloidosis associated with Familial Mediterranean Fever. (I believe this caused confusion, inability to concentrate, and mood swings, among other things in my case.I wonder about ADHD and even Alzheimer’s Disease.) Affected individuals from certain ethnic populations (such as those of Turkish or Sephardic Jewish descent) may have a relatively high incidence of amyloidosis when compared with those from other ethnic groups.

    In most cases, FMF is thought to be inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

    In recessive disorders, the condition does not appear unless a person inherits the defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of the couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but usually will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

    Two teams of researchers have identified the gene responsible for Familial Mediterranean Fever. The disease gene, which is located on the short arm (p) of chromosone 16 (16p13)*, encodes for a protein (named “pyrin” or “marenostrin”) that is thought to play an important role in controlling inflammation. Researchers have identified four mutations of the gene during genetic analysis of affected individuals in several ethnic groups.

    *Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosones for females. Each chromosone has a short arm designated ‘p’ and a long arm identified by the letter “q.” Chromosones are futher subdivided into bands that are numbered.

    One of the research teams suggested that different mutations of the FMF gene may be associated with different levels of disease severity. (I believe this may account for fibromyalgia and chronic fatigue syndrome on the scale of the diseases severity.) For example, the researchers stressed that a particular FMF gene mutation (known as “Met694Val”) is common in certain populations with more severe disease including earlier disease onset, increased frequency of inflammation of the joints (arthritis) and the membranes that line the lungs (pleuritis), and a high occurrence of amyloidosis, while a different FMF gene mutation (called “Val726Ala”) is often present in other populations in which the disease tends to be more mild and amyloidosis occurs less frequently. Accordingly, the research team suggested that inheriting two copies or one copy of the ‘milder’ FMF mutation (i.e., Val726Ala homozygotes or compound heterozygotes) may be “protective” against amyloidosis. Yet it is important to note that some cases later reported in the medical literature demonstrated the development of amyloidosis in affected individuals who inherited one copy of the ‘milder’ mutation (i.e., Val726Ala heterozygotes). Therefore, additional studies are needed to further examine the role specific FMF gene mutations may play in potentially determining disease severity and potential risk of amyloidosis. Such informatin may be essential since ongoing preventive (prophylactic) therapy with the medication colchicine may prevent amyloidosis from developing in those at risk for this serious complication.

    The four mutations of the FMF gene that have been identified to date are present in approximately 85 percent of individuals who have or are carriers for FMF. According to the medical literature, there may be other FMF gene mutations that have not yet been identified. In addition, some researchers suggest that, in rare cases, there may be other factors that may be able to trigger the expression of the disease in those who have inherited only one mutated FMF gene, (multifactorial inheritance). It has also been suggested that certain FMF gene mutations may be inherited as an autosomal dominant trait, meaning that only a single copy of the disease gene is needed to result in expression of the disorder. According to researchers, such theories may be supported by reports in the medical literature in which individuals with just one copy of a known FMF gene mutation have developed the characteristic features associated with the disorder. Additional research is needed to further understand the specific causes of FMF in individuals who currently appear to carry just one FMF disease gene for the disorder.(I have heard that since the genes have been identified, it should not be too long before a blood test could be developed to identify the disease.)

    Familial Mediterranean Fever is a rare disorder that affects more males than females. The symptoms generally begin during childhood or teen years. Episodes of symptoms typically continue throughout life. Most affected individuals have ancestors who lived in areas around the Mediterranean Sea. Shephardic and Iraqui Jews, Turks, Levantine Arabs, and Armenians are at a higher risk for this disease than other populations.

    Approximately 50 percent of the people with Familial Mediterranean Fever have no known family history of this disease.

    Symptoms of the following disorders can be similar to those of Familial Mediterranean Fever. Comparisons may be useful for a differential diagnosis:

    Appendicitis is a common disorder characterized by the acute inflammation of the appendix. The symptoms usually include the sudden onset of pain in the stomach and abdomen, nausea, and/or vomiting. After a few hours, the pain becomes more localized to the lower right portion of the abdomen. (I have been diagnosed with appendicitis since childhood, yet I never had my appendix removed until another surgery was performed and the appendix was removed prophylactically.)
    The following disorders may be associated with FMF as secondary characteristics. They are not necessary for a differential diagnosis:

    Amyloidosis is a term applied to a group of metabolic disorders in which amyloid (a fibrous protein) accumulates in the tissues of the body. The excessive accumulation of amyloid caused the affected organ to malfunction. The accumulation may be localized, general or systemic.The nephrotic (kidney) syndrome associated with amyloidosis is usually accompanied by increased levels of protein in the urine (proteinuria), which worsens as the disease progresses and may finally result in kidney failure. The kidneys become small, pale and hard.
    Because certain gene mutations known to cause FMF have been identified, precise genetic testing may be possible in some cases. However, such testing may only be available through research laboratories with a special interest in this disease. In addition, because the four mutations of the FMF gene that have been identified to date are present in only about 85 percent of the individuals who have or are carriers for FMF, precise diagnosis may be difficult in some cases, such as in individuals with symptoms characteristic of FMF who appear to carry just one FMF disease gene. Further research is needed to better understand the genetic causes and to improve the diagnosis of FMF.

    For reasons that are not yet clearly understoood, the medication colchicine may prevent or reduce attacks in FMF. In addition, if an attack is ongoing, colchicine therapy may often halt the symptoms. Studies have also shown that ongoing preventive (prophylactice) therapy with colchicine may prevent amyloidosis from developing in those at risk for this serious complication. Colchicine therapy may also help treat amyloidosis in affected individuals who have developed this condition.

    Costicosteroid drugs have not proven effective for the treatment of this disease. Narcotic medications should not be used routinely to control pain because of the possiblity of drug addction. For more information, contact:

    Dr. Deborah Zemer
    Dr. Avi Livneh
    Helller Institute for Medical Research
    Sheba Medical Center
    Tel Hashomer

    When the function of the kidneys has been severely impaired by amyloidosis associated with FMF, renal dialysis and kidney transplantation may become necessary.

    Studies on FMF are being conducted. For more information on these studies, please contact:

    Association Francaise Contre Les Myopathies
    1 Rue De L’Internationale
    BP 59-91002
    Evry CEDEX, Nancy
    Phone: 011 33 88 1 69 47 28 28
    Fax: o11 33 88 60 77 12 16

  8. jane32

    jane32 New Member

    I printed this out last year when I was searching for my cure and no dr. would give me the time of day with it they said it is extremely rare and that essentially I was barking up the wrong tree! I am a 2nd generation Italian and they said you have to be from the country.

    I do however get these fevers that cycle that is what made me think about it but I got shot down by 3 infectious disease drs.

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