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Familial Mediterranean Fever

Posted: Sun 22 Mar 2009 23:05
by LymeEnigma
My twin sister's rheumy has suggested the possibility that we have Familial Mediterranean Fever, from our mixed southern Italian/Sicilian heritage. While the chances of us having this rare genetic disorder are rare (and does not discount the infections I've had to deal with), the similarities are uncanny....


From Medline:

Alternative Names

Familial paroxysmal polyserositis; Periodic peritonitis; Recurrent polyserositis; Benign paroxysmal peritonitis; Periodic disease; Periodic fever

Definition

Familial Mediterranean fever is a disorder passed down through families (inherited), which involves repeated fevers and inflammation that often affects the abdomen or lungs.

Causes

The cause of familial Mediterranean fever is unknown. It usually affects people of Mediterranean ancestry, especially non-Ashkenazi (Sephardic) Jews, Armenians, and Arabs, although people from other ethnic groups may also be affected.

Symptoms usually begin between age 5 and 15. Inflammation in the lining of the abdominal cavity, chest cavity, skin, or joints occurs, along with high fevers that usually peak in 12 to 24 hours. Attacks may vary in severity of symptoms, and people are usually symptom free between attacks.

This disease is very rare. Risk factors include a family history of familial Mediterranean fever or having Mediterranean ancestry.

Symptoms

* Fever or alternating chills and fever (relapsing)
* Abdominal pain
* Chest pain that occurs repeatedly (recurrent)
* Recurrent abdominal pain, recurrent
* Recurrent joint pain
o Pain in hip, knee, ankle, shoulder elbow or wrist
o Pain over the small joints of the foot or hand
o Pain in other joints
* Skin lesions that are red and swollen and range from 5-20 cm in diameter

Exams and Tests

There is no specific test to diagnose this disease. Sometimes analysis of the chromosomes can help. Ruling out other possible diseases using laboratory tests or x-rays will help determine the diagnosis.

Certain blood tests may be higher-than-normal when done during an attack. They include:

* White blood cell count
* Erythrocyte sedimentation rate (ESR)
* Plasma fibrinogen
* Serum haptoglobin
* Ceruloplasmin
* C-reactive protein

Treatment

The treatment for familial Mediterranean fever is treatment of symptoms. Colchicine, a medicine that reduces inflammation, may help during an attack and may prevent further attacks.

Outlook (Prognosis)

There is no known cure for familial Mediterranean fever. Most people continue to have attacks, but the number and severity of attacks is different from person to person.

Read the full article: http://www.nlm.nih.gov/medlineplus/ency ... 000363.htm

More on blood tests: http://www.annals.org/cgi/content/full/129/7/539

Re: Familial Mediterranean Fever

Posted: Sun 22 Mar 2009 23:48
by Fin24
Of all persons with FMF, 50-60% are younger than 10 years, 80-95% are younger than 20 years, and 5-10% are older than 20 years at onset. Onset in persons older than 40 years is rare.
and more similar to what you found at
http://emedicine.medscape.com/article/330284-overview

Im guessing here that if onset is later its less likely to be the FMF and more likely something else??

and if you need a great geneticist I know one at Balti now!!!

email or PM me for her name.

LE what age was the onset of your ( and sis') sx?? I always say to check out all possibilites but im thinking this may be less likely for you??