Renal involvement is the main clinical complication and it mostly presents with nephrotic syndrome and chronic renal failure. [ncbi.nlm.nih.gov]

It is important to differentiate the symptoms of FMS from other conditions that may present as abdominal pain and fever. [clevelandclinicmeded.com]

• Amyloidosis

  Biopsy-proven AA amyloidosis was found in 102 (60 %) of 170 patients. [ncbi.nlm.nih.gov]

• Fever

  METHODS: Ninety-four patients with familial Mediterranean fever and 60 healthy volunteers were included in the study. Of the patients, 12 had familial Mediterranean fever related amyloidosis. [ncbi.nlm.nih.gov]

  FMF is characterized by sporadic, paroxysmal attacks of fever and serosal inflammation, lasting 1-3 days. Patients may develop renal amyloidosis. [ingentaconnect.com]

• Turkish

  We previously reported the distribution of the mutations in the carrier chromosomes of FMF-amyloidosis patients. 2–4 We have now completed the analysis of MEFV mutation analysis in 44 Turkish FMF-amyloid patients. [pediatrics.aappublications.org]

  The mortality rate among Turkish patients was high, but this high rate may have represented selection bias. No pre–colchicine-therapy data are available from Arabic patients. [emedicine.medscape.com]

  Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. Gene 2012; 492:285-289. 13. Atagunduz M, Tuglular S, Kantarci G, Akoglu E, Direskeneli H. [ijbms.mums.ac.ir]

  Such a correlation was not found in Turkish patients. The risk of amyloidosis is increased in male FMF patients and in patients bearing polymorphism a/a in the SAA1 gene. [ncbi.nlm.nih.gov]

• Pathologist

  Biopsies were viewed by an experienced pathologist, as necessary. Results. Of the 25 patients referred for kidney biopsy, only 15 (60%) were diagnosed with amyloid kidney disease (AKD), and 10 were diagnosed with another nephropathy. [jrheum.org]

• Hypertension

  We observed hypertension in two patients. Although TCZ’s hypertensive effect is well known, we could not rule out the contribution of cannabinoid use in one. [ojrd.biomedcentral.com]

  Amyloidosis can also lead to hypertension and renal vein thrombosis (may present as loin pain ). Chronic arthritis leading to joint destruction (occurs in about 2%). Infertility and miscarriage (due to pelvic inflammatory disease ). [patient.info]

  […] with familial Mediterranean fever is highly associated with point mutations in the MEFV gene E Ben-Chetrit a, R Backenroth b a Rheumatology Unit, Department of Medicine, Hadassah University Hospital, Jerusalem, Israel, b Department of Nephrology and Hypertension [ard.bmj.com]

  METHODS: Patients with CFS (n=40), non-CFS chronic fatigue (n=73), fibromyalgia (n=41), neurally mediated syncope (n=58), generalized anxiety disorder (n=28), familial Mediterranean fever (n=50), arterial hypertension (n=28), and healthy subjects (n=59 [wikigenes.org]

  The presentation was often difficult to distinguish from FMF attacks, but protracted febrile attacks lasting several weeks, hypertension, thrombocytosis, and dramatic responses to corticosteroid therapy that were observed in many cases were different [thedoctorsdoctor.com]

• Hepatomegaly

  Hepatomegaly, splenomegaly, and autonomic neuropathy frequently occur as the disease progresses; cardiomyopathy occurs rarely. [bu.edu]

  An enlarged liver (hepatomegaly) and an enlarged spleen (splenomegaly) are the most notable signs. [rarediseases.org]

• Myalgia

  Once the diagnosis of FMF and myalgia was made, details about myalgia were collected by interview with the child and his/her parents and entered into a special study form. [thedoctorsdoctor.com]

  Investigations for myalgia (muscle pain) reveal normal muscle enzymes, electromyography (EMG) and muscle biopsy. Amyloidosis most commonly presents as protein in the urine (proteinuria) without red cells or raised blood pressure. [dermnetnz.org]

  Myalgia. Pelvic pain - in females; due to pelvic inflammatory disease (PID). Scrotal pain - in males; due to inflammation of the tunica vaginalis. [patient.info]

  Henoch–Schönlein purpura ), spondylarthropathy, prolonged arthritis of certain joints and protracted myalgia. [11] Genetics [ edit ] The MEFV gene is located on the short arm of chromosome 16 (16p13). [en.wikipedia.org]

  Patients who experience episodes of prolonged myalgia with fever and severe pain may need treatment with prednisone (1 mg/kg) for as long as 6 weeks. Patients with exertional lower extremity muscle pain respond to rest. [emedicine.medscape.com]

• Skin Disease

  Genetics Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases/NIH, Bethesda, MD 20892-1820, USA. [thedoctorsdoctor.com]

  Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. ^ Chae JJ, Wood G, Richard K, et al. (September 2008). [en.wikipedia.org]

  See MEFV. familial Mediterranean fever An autosomal recessive genetic disease featuring recurrent fever, PERITONITIS, ARTHRITIS, chest pain from PLEURISY and a skin rash similar to ERYSIPELAS. [medical-dictionary.thefreedictionary.com]

  Attacks usually last 12–72 hours and can occasionally involve a skin rash. Kidney disease is a serious complication that may develop if the disorder is not treated. [healthofchildren.com]

• Suggestibility

  This observation suggests that the arthritis manifestation of FMF may be associated with ethnic factors rather than with the 694 mutation. [ard.bmj.com]

  In their series, they could not find a case of amyloidosis in 16 patients carrying the common mutation E148Q of the MEFV gene. 1 They mentioned a previously reported patient who was a compound heterozygote M694V/E148Q, suggesting that amyloidosis may [pediatrics.aappublications.org]

  Anyone with symptoms and laboratory findings suggestive of FMF should have genetic tests performed, even if they are not from an ethnic background where FMF is common, as FMF can occur in any ethnic group. [amyloidosis.org.uk]

  This case suggests that tocilizumab could be a new therapeutic option for patients with FMF-associated AA amyloidosis if colchicine is not effective. [ncbi.nlm.nih.gov]

  Still, our data suggest that ethnic background is an important predictor of finding 1 of the presently known mutations, and the knowledge of ancestries atypical for FMF can suggest the diagnosis of other hereditary periodic fever syndromes. [thedoctorsdoctor.com]

• Irritability

  It is most often due to bacterial infection, but can also be caused by a chemical irritant (such as spillage of acid from the stomach or bile from the gall bladder). Pleuritis —Inflammation of the pleura, the membrane surrounding the lungs. [healthofchildren.com]

  […] lesions about 10-15 cm in diameter, occurring below the knee or on the dorsum of the foot. [21], [22] Uncommon manifestations include acute scrotal inflammation, [23], [24], [25] myalgia of variable intensity and duration, [26], [27], [28] meningeal irritation [sjkdt.org]

  Certainly, this is a benefit in view of the common abdominal presentation of the disease, which can be confused with irritable bowel syndrome, inflammatory bowel disease, celiac disease, and other disorders familiar to gastroenterologists. [nature.com]

• Onset in Adolescence

  In most cases, the attacks of fever and pain are first noticed in childhood or adolescence. The interval between these episodes may be days or months, and is not predictable. [medical-dictionary.thefreedictionary.com]

Treatment of the underlying disease decreases the frequency of this complication however if it develops there is no established treatment of AA amyloidosis. [acrabstracts.org]

Although a number of agents have been considered, there is no established treatment of AA amyloidosis. [ojrd.biomedcentral.com]

The major therapy in AA amyloidosis is treatment of the underlying inflammatory or infectious disease. Treatment which suppresses or eliminates the inflammation or infection also decreases the serum amyloid A (SAA) protein. [bu.edu]

Anti-interleukin-1 drugs are the most important agents of biological treatments. In this review, colchicine resistance and treatment options will be evaluated. [ingentaconnect.com]

Treatment The treatment for FMF is a drug called colchicine. Colchicine was originally derived from a flower called the autumn crocus or meadow saffron. This flower has been known to possess medicinal powers since the time of ancient Greece. [amyloidosis.org.uk]

NAKD is common in FMF and, compared to amyloidosis, it is featured with milder course and better prognosis. Contrary to common practice, it is highly recommended to obtain a kidney biopsy from patients with FMF and proteinuria more than 0.5 g/24 h. [jrheum.org]

The key take-home message is that, since the introduction of colchicine, the prognosis for patients with FMF is excellent. [dermatologyadvisor.com]

Prognosis Currently, except for those who get amyloidosis and chronic arthritis, people with FMF have a good quality of life between episodes and an excellent prognosis. [the-medical-dictionary.com]

Prognosis For those individuals who are diagnosed early enough and take colchicine consistently, the prognosis is excellent. [medical-dictionary.thefreedictionary.com]

We believe that periodontitis may be an additive factor to traditional etiological factors for systemic AA amyloidosis as well as being a primary etiological factor. [hypothesisjournal.com]

The etiology of colchicine resistance (CR) remains largely unknown. Studies have shown that low vitamin D levels are more prevalent in patients with FMF compared to healthy controls. [vitamindcouncil.org]

(Etiology) Defective mutation on a particular gene called the MEFV gene, is the principal cause of Familial Mediterranean Fever The symptoms of FMF are due to a defective protein that causes inflammation of the joints and other body regions. [dovemed.com]

Etiology FMF is an autosomal recessive disorder, resulting from mutations in the MEFV gene. FMF carrier frequencies are extremely high in the eastern Mediterranean. Pathophysiology MEFV encodes a protein called pyrin. [dermatologyadvisor.com]

J Rheumatol. vol. 38. 2011. pp. 516 Ongoing controversies regarding etiology, diagnosis, treatment Long term risks/benefits of treatment with biologics, given uncertain future risks, particularly for malignancies, opportunistic infections, autoimmune [clinicaladvisor.com]

In Armenian persons (based on epidemiology among Armenian populations in Lebanon and southern California), the estimated prevalence of FMF is 1 case per 500 population, with a gene frequency of 1 per 7. [emedicine.medscape.com]

Epidemiology FMF is common in people from eastern Mediterranean countries but is not restricted to these ethnic groups. [ 5 ] Male-to-female ratio is 1.5-2:1. Presentation [ 6, 7, 8 ] The majority present in the first decade of life. [patient.info]

[…] with colchicine-resistant FMF and in two additional autoinflammatory recurrent fever syndromes: mevolonate kinase deficiency (hyper- immunoglobulin D syndrome, or HIDS ) and tumor necrosis factor receptor-associated periodic syndrome ( TRAPS ). [19] Epidemiology [en.wikipedia.org]

American Journal of Epidemiology 175 (10): 1054–1061. Yilmaz E, Ozen S, Balci B, et al. (2001) Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. [els.net]

Pathophysiology Associated with mutations in the MEFV (Mediterranean fever) gene located on chromosome 16. [ 2 ] Although FMF was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV [patient.info]

Moreover, as the pathophysiology of this disorder becomes less of a hypothesis and more of an understood entity, it is likely that treatment options will broaden beyond the use of daily prophylactic colchicine. [thedoctorsdoctor.com]

Pathophysiology MEFV encodes a protein called pyrin. Wild-type pyrin appears to have an important role in the regulation of the pro-inflammatory pathways of the innate immune system. [dermatologyadvisor.com]

Whether this is due to modifier genes or environmental factors remains to be established. [12] Pathophysiology [ edit ] Virtually all cases are due to a mutation in the Mediterranean Fever (MEFV) gene on the sixteenth chromosome, which codes for a protein [en.wikipedia.org]

Masters SL, Simon A, Aksentijevich I, et al. (2009) Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annual Review of Immunology 27: 621–628. [els.net]

As well as preventing FMF attacks, regular colchicine treatment is effective in preventing development of AA amyloidosis in most patients with FMF. [amyloidosis.org.uk]

Colchicine prevents attacks and renal amyloidosis.5% to 10% of the patients with FMF are resistant or intolerant to colchicine. Colchicine resistant patients may receive biological therapies. [ingentaconnect.com]

Therefore, it may prevent the deposition of serum amyloid A fibers. [link.springer.com]

Colchicine Colchicine is so effective in preventing attacks of familial Mediterranean fever (FMF) and preventing the development of amyloidosis that the most important aspects of medical care are to make the correct diagnosis and to institute therapy. [emedicine.medscape.com]