Familial Mediterranean Fever ~ a Rare genetic disease


I do not look like I have a single drop of Mediterranean blood in me, so why do i care about this rare genetic disorder? Because the color of skin is only skin deep. Because despite the pale appearance of my exterior,  I have the genetic ancestor from that part of the world who handed me this recessive trait. Because I have this disease and have to live with it…

Breezy Kiefair struggling to gain weight post flare

Breezy Kiefair struggling to gain weight post flare

I care because I need to repost the links as many times as possible in hopes that those related to me by blood will heed my warning and look for signs of the disorder in the kids…. I have made no secret of the fact that I am far estranged from my biological family, so I turn to electronic means to spread the word.

There is no cure, but the treatment does help….. There is no cure, but knowledge that there is indeed something wrong and that I am not a hypochondriac is soothing to the mind…. There is no cure, but it sure as hell does explain a lot about both myself and my blood relatives… BOTH my parents had to have the recessive gene in order for me to have this disorder. Both my parent’s sets of siblings may also be carriers of these recessive traits….  ALL of my blood siblings (half or full blooded) are POTENTIAL carriers of the defect…. Therefore, ALL of my blood nieces and nephews are potential victims of the disease as well as their children. It is my hope that those in my family will stumble upon this post and then value the family’s future generations enough to spread this information to where it may be of use (i emailed it directly to those whose email addresses I possess in my bloodline)
the below information was retrieved from: http://ghr.nlm.nih.gov/condition/familial-mediterranean-fever

What is familial Mediterranean fever?

Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable. Without treatment to help prevent attacks and complications, a buildup of certain protein deposits (amyloidosis) in the body’s organs and tissues may occur, which can lead to kidney failure.

How common is familial Mediterranean fever?

Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arabic, Turkish, and Jewish ancestry. The disorder affects from 1 in 250 people to 1 in 1,000 people in these populations. It is less common in other populations.

What genes are related to familial Mediterranean fever?

Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops the inflammatory response to prevent damage to its own cells and tissues.

Mutations in the MEFV gene reduce the activity of the pyrin protein, which disrupts control of the inflammation process. An inappropriate or prolonged inflammatory response can result, usually accompanied by fever and pain in the abdomen, chest, or joints.

Normal variations in the SAA1 gene may modify the course of familial Mediterranean fever. Some evidence suggests that a particular version of the SAA1 gene (called the alpha variant) may increase the risk of amyloidosis among people with familial Mediterranean fever.

Read more about the MEFV and SAA1 genes.

How do people inherit familial Mediterranean fever?

Familial Mediterranean fever is almost always inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

In rare cases, this condition appears to be inherited in an autosomal dominant pattern, in which one copy of the altered gene in each cell is sufficient to cause the disorder and affected individuals often inherit the mutation from one affected parent. However, there are other possible explanations of this apparent pattern. A gene mutation that occurs frequently in a population may result in a disorder with autosomal recessive inheritance appearing in multiple generations in a family, a pattern that mimics autosomal dominant inheritance. If one parent has familial Mediterranean fever (with two mutations in the MEFV gene) and the other parent is an unaffected carrier (with one mutation in the MEFV gene), it may appear as if the affected child inherited the disorder only from the affected parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance.

Where can I find information about diagnosis or management of familial Mediterranean fever?

These resources address the diagnosis or management of familial Mediterranean fever and may include treatment providers.

You might also find information on the diagnosis or management of familial Mediterranean fever inEducational resources and Patient support.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about familial Mediterranean fever?

You may find the following resources about familial Mediterranean fever helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for familial Mediterranean fever?

  • Benign paroxysmal peritonitis
  • Familial paroxysmal polyserositis
  • FMF
  • Hereditary Periodic Fever Syndromes
  • Mediterranean Fever, Familial
  • MEF
  • Periodic Disease
  • Periodic peritonitis
  • Recurrent polyserositis
  • Reimann periodic disease
  • Siegal-Cattan-Mamou disease
  • Wolff Periodic Disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about familial Mediterranean fever?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding familial Mediterranean fever?

amyloidosis ; autosomal ; autosomal dominant ; autosomal recessive ; benign ; carrier ; cell ; complication ;familial ; fever ; gene ; immune system ; inflammation ; inheritance ; injury ; joint ; kidney ; molecule ;mutation ; population ; protein ; pseudodominance ; recessive ; sign ; symptom ; syndrome ; teenage ;tissue ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (13 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: September 2008
Published: October 23, 2012

please also read: 

http://emedicine.medscape.com/article/330284-overview#showall

 
and here is some more information retrieved from: http://en.wikipedia.org/wiki/Familial_Mediterranean_fever

Familial Mediterranean fever

From Wikipedia, the free encyclopedia

Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder[1]:149. FMF is an autoinflammatory disease caused by mutations in MEFV, a gene which encodes a 781–amino acid protein denoted pyrin.[2]

The disorder has been given various names including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann’s syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease.[3][4][5] Note that “periodic fever” can also refer to any of thePeriodic fever syndromes.

Epidemiology

FMF affects groups of people originating from around the Mediterranean Sea (hence its name). It is prominently present in the Armenian people, Sephardi Jews (and, to a much lesser extent, Ashkenazi Jews), CypriotsTurks and Arabs.[6]

[edit]Signs and symptoms

[edit]Attacks

There are seven types of attacks. Ninety percent of all patients have their first attacks before they are 18 years old. All develop over 2–4 hours and last anywhere from 6 hours to 4 days. Most attacks involve fever.[6]

  1. Abdominal attacks, featuring abdominal pain, affect the whole abdomen with all signs of peritonitis (inflammation of abdominal lining), and acute abdominal pain likeappendicitis. 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.
  2. Joint attacks mainly occur in large joints, especially in the legs. Usually, only one joint is affected. Seventy-five percent of all FMF patients experience joint attacks.
  3. Chest attacks include pleuritis (inflammation of the pleura) and pericarditis (inflammation of the pericardium). Pleuritis occurs in 40% of patients, and makes it difficult to breathe or lie flat, but pericarditis is rare.
  4. Scrotal attacks due to inflammation of the tunica vaginalis occurs in up to 5% and may be mistaken for acute scrotum (i.e. testicular torsion).
  5. Myalgia (rare in isolation)
  6. Erysipeloid (a skin reaction on the legs, rare in isolation)
  7. Fever without any of the other symptoms listed above (25%)

[edit]Complications

AA-amyloidosis with renal failure is a complication and may develop without overt crises. AA amyloid protein is produced in very large quantities during attacks, and at a low rate between them, and accumulates mainly in the kidney, as well as the heartspleengastrointestinal tract and thyroid.[6]

There appears to be an increase in the risk for developing particular vasculitis-related diseases (e.g. Henoch-Schönlein purpura), spondylarthropathy, prolonged arthritis of certain joints and protracted myalgia.[6]

[edit]Diagnosis

The diagnosis is clinically made on the basis of the history of typical attacks, especially in patients from the ethnic groups in which FMF is more highly prevalent. An acute phase response is present during attacks, with high C-reactive protein levels, an elevated white blood cell count and other markers of inflammation. In patients with a long history of attacks, monitoring the renal function is of importance in predicting chronic renal failure.[6]

A genetic test is also available to detect mutations in the MEFV gene. Sequencing of exons 2, 3, 5, and 10 of this gene detects an estimated 97% of all known mutations.[6]

A specific and highly sensitive test for FMF is the “Metaraminol Provocative Test (MPT),” whereby a single 10 mg infusion of Metaraminol is administered to the patient. A positive diagnosis is made if the patient presents with a typical, albeit milder, FMF attack within 48 hours. As MPT is more sensitive than specific, it does not identify all cases of FMF. Although a positive MPT can be very useful.[7][8]

[edit]Pathophysiology

Virtually all cases are due to a mutation in the MEFV gene on the sixteenth chromosome, which codes for a protein called pyrin or marenostrin. Various mutations of this gene lead to FMF, although some mutations cause a more severe picture than others. Mutations occur mainly in exons 2, 3, 5 and 10.[6]

The function of pyrin has not been completely elucidated, but it appears to be a suppressor of the activation of caspase 1, the enzyme that stimulates production of interleukin 1β, a cytokine central to the process of inflammation. In other words an ineffective pyrin doesn’t inhibit inflammation normally, resulting in inflammatory episodes of membranes at differing sites. It is not conclusively known what exactly sets off the attacks, and why overproduction of IL-1 would lead to particular symptoms in particular organs (e.g. joints or the peritoneal cavity).[6]

[edit]Genetics

Familial Mediterranean fever has an autosomal recessive pattern of inheritance.

The MEFV gene is located on the short arm of chromosome 16 (16p13). The disorder inherits in an autosomal recessive fashion. Therefore, two asymptomatic carrier parents have a 25% chance of a child with the disorder, a 50% chance of a child who is an asymptomatic carrier and a 25% chance of a child who does not carry the disorder. FMF patients who have children with a carrier or another FMF patient have a 50% and 100% chance, respectively, of having a child with FMF.[9][10]

There is one known case of an affected patient with only one parent who is a carrier. This is caused by a unique mutation on thesixteenth chromosome.

[edit]Treatment

Attacks are self-limiting, and require analgesia and NSAIDs (such as diclofenac).[6]

Colchicine, a drug otherwise mainly used in gout, decreases 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.[6] Some advise discontinuation of colchicine before and during pregnancy, but the data are inconsistent, and others feel it is safe to take colchicine during pregnancy.[11]

Approximately 5-10% of FMF cases are resistant to colchicine therapy alone. In these cases, adding anakinra to the daily colchicine regimen has been successful.[12]

[edit]History

New York allergist, Dr Sheppard Siegal, first described the attacks of peritonitis in 1945; he termed this “benign paroxysmal peritonitis”, as the disease course was essentially benign.[13] Dr Hobart Reimann, working in the American University in Beirut, described a more complete picture which he termed “periodic disease”.[14][15]

In 1972, colchicine was discovered to prevent attacks.[16]

The link to the MEFV gene was discovered in 1997 by two different groups, each working independently – the French FMF Consortium,[9] and the International FMF Consortium.[10]

[edit]See also

[edit]References

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Chae JJ, Wood G, Richard K et al. (September 2008). “The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment”Blood 112 (5): 1794–1803. doi:10.1182/blood-2008-01-134932PMC 2518886PMID 18577712.
  3. ^ Dugdale III, David C; Jatin Vyas (2010-09-15). “Familial Mediterranean fever – PubMed Health”PubMed Health. National Centre for Biotechnology Information. Retrieved 2011-04-24.
  4. ^ Enersen, Ole Daniel. “Whonamedit – Siegal-Cattan-Mamou syndrome”Whonamedit? A dictionary of medical eponyms. Archived from the original on 2001-04-24. Retrieved 2011-04-24.
  5. ^ “Familial Mediterranean fever – Genetics Home Reference”Genetics Home Reference. U.S. National Library of Medicine. 2011-04-14. Archived from the original on 2011-04-24. Retrieved 2011-04-24.
  6. a b c d e f g h i j Livneh A, Langevitz P (2000). “Diagnostic and treatment concerns in familial Mediterranean fever”. Baillieres Best Pract Res Clin Rheumatol 14 (3): 477–498.doi:10.1053/berh.2000.0089PMID 10985982.
  7. ^ Barakat MH, El-Khawad AO, Gumaa KA, El-Sobki NI, Fenech FF (1984). “Metaraminol provocative test: a specific diagnostic test for familial Mediterranean fever”. Lancet 1(8378): 656–7. PMID 6142351.
  8. ^ Huppertz HI, Michels H (1988). “[The metaraminol provocation test in the diagnosis of familial Mediterranean fever]“. Monatsschr Kinderheilkd 136 (5): 243–5. PMID 3405225.
  9. a b The French FMF Consortium (1997). “A candidate gene for familial Mediterranean fever”. Nat. Genet. 17 (1): 25–31. doi:10.1038/ng0997-25PMID 9288094.
  10. a b The International FMF Consortium (1997). “Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever”. Cell 90(4): 797–807. doi:10.1016/S0092-8674(00)80539-5PMID 9288758.
  11. ^ Michael O, Goldman RD, Koren G (August 2003). “Safety of colchicine therapy during pregnancy”Can Fam Physician 49: 967–9. PMC 2214270PMID 12943352.
  12. ^ Calligaris L, Marchetti F, Tommasini A, Ventura A (2008). “The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever”European Journal of Pediatrics 167 (6): 695–696. doi:10.1007/s00431-007-0547-3PMC 2292480PMID 17588171.
  13. ^ Siegal S (1945). “Benign paroxysmal peritonitis”. Ann Intern Med 23 (2): 234–47. PMID 18124924.
  14. ^ Reiman HA (1948). “Periodic disease. Probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia”. J Am Med Assoc 136 (4): 239–44. PMID 18920089.
  15. ^ synd/2503 at Who Named It?
  16. ^ Goldfinger, S.E. (1972-12-21). “Colchicine for familial Mediterranean fever”. New England Journal of Medicine 287 (25): 1302. doi:10.1056/NEJM197212212872514.PMID 4636899.

[edit]External links

Breezy Says:

The treatment for any persons afflicted with the disease is a gout medication called colchicine. You can read up on the medication here:
In addition to the Colchicine, I recommend a regimen of ingesting Phoenix Tears Oil (hash oil made from the cannabis plant) by mouth in concert with smoking the plant to treat pain and juicing the fan leaves to decrease intestinal symptoms and increase appetite.

–Auto signature below–
Respectfully,
Breedheen O’Rilley Keefer
AKA Breezy Kiefair

links about breezy
blog

the more in depth, needs editing, 31 page version to help you understand why i sit at my machine fighting the machine day in and day out.
~ Do all that you can to cultivate peace within yourself, that it might
shine out from you, and plant the seed of peace in other spirits, for them
to cultivate.~{Remember… it is when we choose act on the issues that are in front of
our faces, when we choose to get involved instead of looking the other way
as our fellow man struggles, when we choose to take those small simple
little actions, working on righting little wrongs in our everyday lives that
really make change happen, those seemingly small actions are what really
make the world a better place and are a catalyst for greater social change.}
~Both quotes by Breedheen “Bree” O’Rilley Keefer~

About Breezy Kiefair

links about breezy blog http://breedheenorilleykeefer.com/ http://misshightimes.com/users/breezykiefair on youtube http://www.youtube.com/user/Mr8MrsKiefAir?feature=mhsn ~ Do all that you can to cultivate peace within yourself, that it might shine out from you, and plant the seed of peace in other spirits, for them to cultivate.~ {Remember... it is when we choose act on the issues that are in front of our faces, when we choose to get involved instead of looking the other way as our fellow man struggles, when we choose to take those small simple little actions, working on righting little wrongs in our everyday lives that really make change happen, those seemingly small actions are what really make the world a better place and are a catalyst for greater social change.} ~Both quotes by Breedheen "Bree" O'Rilley Keefer~ an interview in the 420 times http://the420times.com/2010/06/the-faces-of-medical-marijuana-an-interview-with-breez/ Cannabis Health News Magazine... see pages 37-39 http://cannabishealthnewsmagazine.com/PDF/CHNM_Feb2010_small.pdf

Posted on 2012/10/24, in American Dream, Americans, bone healing, Breedheen O'Rilley Keefer, Breezy, Breezy Kiefair, broken leg, broken pelvis, Business, Business and Economy, Cannabidiol, Cannabis, cannabis, cannabis brownies, cannabis issue, Cannabis Legalization, cannabis plant, cannabis poets, cbd, Chronic pain, Clinics and Practices, co, Colorado, Colorado Springs, colorado springs co, Compassionate Moms, Conditions and Diseases, Controlled Substances Act, Crohn's disease, current-events, Death, Denver, Diabetes mellitus, Drug, Drug Enforcement Administration, Drug possession, Drug War, Drugs, edible cannabis, environment, facebook, Family, Food, Foster care, friends of the family, Google, government, Green Living, Grief Loss and Bereavement, Hash oil, Healing, healing, Health, healthcare debate, healthy-living, Hemp, Hemp oil, hemp plant, Herb, herb experience, Home, Illegal, indica medibles, Injustice, inspiration, intractable pain, leadership, Legality of cannabis, Life extension, luck of the draw, marijuana oil, marijuana prohibition, medibles, Medical cannabis, medical marijuana, Medical Specialties, medical system, medicinal cannabis, Medicine, mental-health, natural healing, nature, Neurological Disorders, nutrition, nutritional supplements, opportunity, Organ (anatomy), Pain, Pain Management, pain medication, people, Pharmaceutical drug, pharmaceutical profits, Phoenix, Phoenix Tear, Phoenix Tears, phoenixtears, physical abuse, Physician, Pikes Peak, Plant, plants, politics, possession of cannabis, Pro-Legalization, Religion and Spirituality, research, revolution, rick simpson hash oil method, Rick Simpson Oil, Rick Simpson Oil Testimonials, sad truth, science, stress, survival gene activator, Tetrahydrocannabinol, twitter, United States, vital organs, wealth, Westley, Westley Thorin Keaton Roberts, writing and tagged , , , , , , , , . Bookmark the permalink. 5 Comments.

  1. Greetings! I’ve been following your website for some time now and finally got the bravery to go ahead and give you a shout out from Austin Texas! Just wanted to say keep up the fantastic work!

    Like

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