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Hello,
My name is Melissa. I am a parent of a child that has been diagnosed with one of the periodic fever diseases. Would like to chat with other parents.
Thanks
Hello,
My name is Melissa. I am a parent of a child that has been diagnosed with one of the periodic fever diseases. Would like to chat with other parents.
Thanks
Hi Melissa,
Our now 7 year old daughter is undiagnosed and possibly has a rare type of Periodic Fever Syndrome. Doctors have been involved since September last year and we now have a top Paediatric Rheumatologist helping us - about to table her case at a national conference here in Australia - but all docs so far have been unable to diagnose her condition.
Would love to here your experience and your childs symtpoms and how it all began...
Ours feels like such a long road already, but the last four weeks have been her best yet (despite always being ill - no severe bouts in this period)
Her main symptoms have been bouts of spiked fevers and severe pain that last about 12 days. Although every day she is generally achey and unwell.
Hope you and your child are coping well.
Nicole
Hi I would love to talk to you about our experience! My 5 1/2 year old daughter has had symptoms for about four months now with fevers, headaches, stomach pain, rash, joint pain, and unusual bowels. We have been through so omany tests and have come up with nothing! It hurt so much to see our children in pain and I want so see an end in sight to this as I'm sure you do too!
Some abstracts about FMF-oldest first
Auto inflammatory syndromes: Diagnosis and treatment
Joint Bone Spine, Volume 74, Issue 6, December 2007, Pages 544-550
Katia Stankovic, Gilles Grateau
Abstract
Hereditary recurrent fevers are rare genetic diseases characterized by apparently spontaneous attacks of inflammation. They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle–Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease). Musculoskeletal manifestations are common. They may occur as features of the acute inflammatory attacks or persist for longer periods. Among them, the most common include arthritis of the large and medium-sized joints in FMF and CINCA, arthralgia in HIDS, and myalgia or pseudo-fasciitis in TRAPS. The outcome is usually favorable, although joint destruction may develop in CINCA or at the hip in FMF. The recurrent bouts of fever and accompanying clinical manifestations suggest the diagnosis, which can be confirmed by genetic testing. Among differential diagnoses, infection should be considered routinely. The treatment of the inflammatory attacks is nonspecific. New pathophysiological insights have led to the development of promising maintenance treatments designed to reduce the number and severity of the inflammatory attacks and to diminish the risk of secondary amyloidosis.
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Impaired coronary microvascular function in familial Mediterranean fever
Atherosclerosis, Volume 195, Issue 2, December 2007, Pages e161-e167
Mustafa Caliskan, Hakan Gullu, Sema Yilmaz, Dogan Erdogan, Gulhan Kanat Unler, Ozgur Ciftci, Semra Topcu, Zeynep Kayhan, Eftal Yucel, Haldun Muderrisoglu
Abstract
Background
Patients with inflammatory rheumatic diseases have an increased risk of developing atherosclerosis. However, the question of whether patients with familial Mediterranean fever (FMF) are at risk of atherosclerosis and related diseases remains controversial.
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Oxidative DNA damage in polymorphonuclear leukocytes of patients with familial Mediterranean fever
Free Radical Biology and Medicine, Volume 44, Issue 3, 1 February 2008, Pages 386-393
Güldal Kirkali, Mehmet Tunca, Sermin Genc, Pawel Jaruga, Miral Dizdaroglu
Abstract
Familial Mediterranean fever (FMF) is an autosomal recessively inherited disorder characterized by recurrent, inflammatory self-limited episodes of fever and other symptoms. This disease is caused by more than 25 mutations in the gene MEFV. During fever attacks, there is a substantial influx of polymorphonuclear leukocytes into the affected tissues. Attack-free periods are accompanied by the up-regulation of neutrophil and monocyte phagocytic activity and oxidative burst. These facts led us to hypothesize that oxidative damage by free radicals to DNA may accumulate in FMF patients. To test this hypothesis, we investigated oxidative DNA damage in polymorphonuclear leukocytes of FMF patients during the attack-free period in comparison with FMF-free control individuals. DNA was isolated from polymorphonuclear leukocytes of 17 FMF patients and 10 control individuals. DNA samples were analyzed by liquid chromatography/mass spectrometry and gas chromatography/mass spectrometry to measure the levels of various typical oxidatively induced products of DNA. We show, for the first time, that FMF patients accumulate statistically significant levels of these lesions in their DNA when compared to FMF-free control individuals. This work suggests that the persistent oxidative stress with excess production of free radicals in FMF patients may lead to accumulation of oxidative DNA damage. Defective DNA repair may also contribute to this phenomenon, perhaps due to mutations in the MEFV gene. The accumulation of mutagenic and cytotoxic DNA lesions may contribute to increased mutations and apoptosis in FMF patients, thus to worsening of the disease and well-being of the patients. Future research should deal with prevention of oxidative DNA damage and apoptosis in FMF patients, and also the elucidation of a possible role of DNA repair in this disease.
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Common MEFV Mutation Analysis in Iranian Azeri Turkish Patients with Familial Mediterranean Fever
Seminars in Arthritis and Rheumatism, Volume 37, Issue 5, April 2008, Pages 334-338
Mohsen Esmaeili, Mortaza Bonyadi, Mandana Rafeey, Kazem Sakha, Mohammad Hossein Somi
AbstractAbstract | Figures/TablesFigures/Tables | ReferencesReferencesObjectives
To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations among Azeri Turkish patients from northwestern Iran.
Methods
One hundred ninety unrelated patients were referred by specialists to the Molecular-Medical Genetic Center of Tabriz. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV gene was performed for the 5 most commonly known mutations, namely M694V, V726A, M680I, M694I, and E148Q, by using amplification refractory mutation system for the first 4 and by polymerase chain reaction restriction-digestion testing for E148Q. These methods may also be used as a screening tool within affected families.
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I translated from the French - please forgive errors
Étude des taux circulants d’adrénomédulline dans la spondylarthrite ankylosante et la fièvre méditerranéenne familiale(Study of the circulating rates of adrénomédulline in the spondylarthrite ankylosante and the Familial Mediterranean fever)
Revue du Rhumatisme, Volume 75, Issue 5, May 2008, Pages 428-432
Kemal Üreten, Mustafa Özbek, Mehmet Akif Öztürk, Ilker Dogru, Arzu Dogru, Muhittin Yürekli, Feridun Karakurt, Ahmet Mesut Onat
Résumé Introduction the adrénomédulline (WMD) is a peptide of 52 amino acids having of the properties vasodilatatrices. Beside its implications on vascular tonicity, the WMD can also contribute to the inflammatory phenomena. The plasmatic rates of WMD are high in the diseases of conjunctive fabric and vascularities. The spondylarthrite ankylosante (SPA) is a chronic disease of the rachis which begin with the sacro-iliaques articulations. The family Mediterranean fever (FMF) is a hereditary disease a hereditary disease characterized by short feverish crises with variable intervals and the presence of pains prolonged apart from these periods. During this study, we examined the plasmatic rate of WMD among patients reaches SPA or FMF.Methods Twenty patients reached of SPA with active demonstrations of the disease (average age: 41,6 ± 10,9 years, women/men: 7/13), 28 patients reached of FMF with acute crises (average age: 27,4 ± 10,7 years, women/men: 17/11)and 26 people in good health (average age: 39,9 ± 5,5 years, women/men: 16/10) were included in this study. The rates of WMD also were measured among 11 patients reached of FMF two months after the stop of their crises. The rates of WMD of these 11 patients were compared during and apart from their accesses of FMF. Results the median plasmatic rates of WMD of 23,8 (17,2-40,0), 27,3 (17,2-38,5) and 26,1 pmol/mL (17,05-37,42) for the patients are reached,respectively, of SPA, FMF with acute crises and the healthy people (p > 0,05). The rates of WMD are also similar among patients reaches FMF apart from the periods of crisis (26,3 pmol/mL [24,3-34,1]). There is no correlation between theplasmatic rates of WMD and the protein C reactivates, or between the plasmatic rates of WMD and the sedimentation test of the érythrocytes. Conclusion the WMD does not seem to have of role in the pathogenesis of the SPA and the FMF. The high rates of WMD highlighted by preceding studies in diseases of conjunctive fabric and vascularities are probably specific, and the WMD does not appear to be a molecule common to rheumatic inflammatory pathologies.
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Familial Mediterranean fever during pregnancy: An independent risk factor for preterm delivery
European Journal of Obstetrics & Gynecology and Reproductive Biology, In Press, Corrected Proof, Available online 3 September 2008
Danielle Ofir, Amalia Levy, Arnon Wiznitzer, Moshe Mazor, Eyal Sheiner
Abstract
ReferencesReferencesAbstract
Objective
To investigate pregnancy outcome of patients with Familial Mediterranean fever (FMF).
Study design
A population-based study comparing all pregnancies of women with and without FMF between the years 1988 and 2006 was conducted. Stratified analyses, using the Mantel–Haenszel procedure and multiple logistic regression models, were performed to control for confounders.
Results
During the study period there were 175,572 deliveries, of which 239 occurred in patients with FMF. Using a multivariable analysis, the following conditions were significantly associated with FMF: preterm delivery (PTD, <37 weeks) (odds ratio (OR) = 1.5; 95% confidence interval (CI) 1.1–2.2), fertility treatments (OR = 2.5; 95% CI 1.4–4.4), recurrent abortions (OR = 2.2; 95% CI 1.5–3.2), labor induction (OR = 1.9; 95% CI 1.5–2.5) and malpresentations (OR = 1.8; 95% CI 1.2–2.8). Patients with FMF were more likely to deliver by cesarean delivery (CD) as compared to the comparison group (18.0% vs. 12.8%; P = 0.017). However, while controlling for possible confounders such as malpresentations, labor dystocia and failed induction, using multivariable analysis with CD as the outcome variable, FMF was not found as an independent risk factor for CD (adjusted OR = 1.2; 95% CI 0.8–1.8, P = 0.388). No significant differences were noted between the groups regarding perinatal outcomes such as low Apgar scores (<7) at 1 and 5 min (2.4% vs. 4.3%, P = 0.153 and 0.4% vs. 0.6%, P = 0.692; respectively), congenital malformations (5.2% vs. 4.9%, P = 0.838), or perinatal mortality (0.8% vs. 1.4%, P = 0.445). Stratified analysis, using the Mantel–Haenszel technique, was used to assess the association between FMF and PTD while controlling for possible confounders such as iatrogenic labor induction, fertility treatments, recurrent abortions and placental abruption. None of those variables explained the higher incidence of PTD in the group of patients with FMF.
Conclusion
Familial Mediterranean fever is an independent risk factor for preterm delivery. Nevertheless, perinatal outcome is comparable to the general population----------------------------------------------------------------- ---------
There are other articles but if you would like more information I suggest contacting your rheumatologist or an AA amyloidoisis expert. You may e-mail me at
muriel@finkelsupply.com . I am no expert but can find more articles for you.
Muriel Finkel
Amyloidosis Support Groups Inc.
www.amyloidosissupport.com
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