BECHETSYNDROME is a relapsing, multi-system
inflammatory disease in which there are oral/genital ulcers.
There may be inflammation of the eyes, joints, blood vessels,
central nervous system and gastrointestinal tract involvement.
Attacks last about a week to a month and recur spontaneously.
Onset is usually between 20-30 years of age with symptoms
ocurring up to several years after the onset. Twice as many men
as women are affected. There is a genetic predisposition, with
autoimmune mechansism and viral infection which may all play a
Related disorders are Reiters Syndrome, Stevens Johnson Syndrome, and Ulcerative Colitis.
JOSEPHS DISEASE is a disorder of the central nervous system with slow degeneration of particular areas of the brain. Lurching gait, difficulity in speaking, muscle rigidity, impairment of eye movement, are involved. Mental alertness and intellect are preserved. Josephs disease is inherited through autosomal dominant mode of transmission. Type I, begins about age 20 years, Type II, about 30 years and Type III, Machados after 40 years. This disease is very similar to Parkinsons Disease.
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:
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 Alzheimers 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:
The following disorders may be associated with FMF as secondary characteristics. They are not necessary for a differential diagnosis:
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
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 LInternationale
Evry CEDEX, Nancy
Phone: 011 33 88 1 69 47 28 28
Fax: o11 33 88 60 77 12 16
SARCOIDOSIS is a disorder which affects many body systems. It is characterized by small round lesions of granulation tissue. Symptoms may vary with the severity of the disease. Fever, weight loss, joint pain, with liver involvement and enlarged lymph nodes are common. Cough and difficulty in breathing may occur. Skin disease marked by tender red nodules with fever and joint pain is a frequent manifestation. Onset is usually between 20 and 40 years.
THALLASEMIA MAJOR is a rare blood disorder characterized by a marked increase in F hemoglobin and a decrease in the production of certain oxygen carrying proteins in red blood cells (beta polypeptide chains in the hemoglobin molecule). Thalassemia Major is the most severe form of chronic familial anemias that result from the premature destruction of red blood cells (hemolytic). This disease was originally found in people living near the Mediterranean Sea. People with this disorder also have a reduced number of circulating red blood cells (erythrocytes). Thalassemia Minor is a lesser version of this disease.
If you have had a mysterious disease that physicians have had trouble diagnosing, and you have any of the above symptoms, it is imperative that you bring this to your physicians attention.
This page was submitted by Nancy
Sparks Morrison and the opinions in this page are strictly
the author's, based upon her reading and research of various
materials noted herein.
© Nancy Sparks Morrison, 1998, 1999.
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This page was last modified on: Thursday, 01-Jul-1999 13:38:50 MDT