Heel pain as presenting feature of Familial Mediterranean Fever

NewsBot · Sep 27, 2012

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Concomitance of Gitelman Syndrome and Familial Mediterranean Fever: A Rare Case Presentation.
Erten S, Ceylan GG, Altunoğlu A.
Ren Fail. 2012 Sep 25.

We report a case that has Gitelman syndrome (GS) and familial Mediterranean fever (FMF) presenting with recurrent arthritis of right knee and heel pain. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of heterozygous E148Q mutation in the MEFV gene. Management with potassium, magnesium supplements, spironolactone for GS, and colchicine for FMF resulted in a signiﬁcant improvement in symptoms. To the best of our knowledge, this is the first report of association between GS and FMF. Further studies are needed to identify if there is an association between these two diseases and the genes responsible for these diseases.
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NewsBot · Jan 24, 2013

Increased enthesopathy in patients with familial mediterranean Fever: evaluation with a new sonographic enthesitis index.
Ozkan F, Cetin GY, Inci MF, Bakan B, Yuksel M, Ekerbicer HC, Sayarlioglu M.
J Ultrasound Med. 2013 Feb;32(2):325-32.

Objectives The aim of this study was to determine the frequency of enthesopathy in familial Mediterranean fever by using a newly developed sonographic method, the Madrid Sonographic Enthesitis Index (MASEI). Methods The study included 50 consecutive patients with familial Mediterranean fever and 57 healthy sex- and age-matched control participants. Six entheseal sites (olecranon tuberosity, superior and inferior poles of the patella, tibial tuberosity, and superior and inferior poles of the calcaneus) on both lower limbs were evaluated. All sonographic findings were identified according to MASEI. Validity was analyzed by receiver operating characteristic curves. P < .05 was considered significant. Results Mean total enthesitis scores ± SD were 7.54 ± 4.99 for patients and 3.63 ± 3.03 for controls (P < .001). No statistically significant correlation was found between the MASEI score and familial Mediterranean fever duration or colchicine treatment duration. There was no difference between the MASEI score and the presence or absence of arthritic involvement among the patients. The area under the receiver operating characteristic curve was 0.74 (95% confidence interval, 0.649-0.839). When analyzed by sex, men with familial Mediterranean fever had significantly higher MASEI scores than women (P < .05). Conclusions This study showed significant enthesopathy in patients with familial Mediterranean fever. The findings support the hypothesis that familial Mediterranean fever and spondyloarthropathy may have common inflammatory mechanisms and suggest that the MASEI scoring system can be incorporated into clinical protocols for studying patients with familial Mediterranean fever in daily practice.
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NewsBot · Dec 10, 2016

Enthesitis in a 16-Year-Old Boy with M694V Mutation
Syert Luidolf Nienhuis and Robin Eric Westerbeek
Case Reports in Medicine; Volume 2016, Article ID 5869250, 3 pages

Introduction. FMF (Familial Mediterranean Fever) is characterized by recurrent attacks of fever and articular pain. Enthesitis is the
hallmark of pain in spondyloarthropathy. Literature suggests association of M694V mutation and enthesitis. We report a case of a
16-year-old boy with enthesitis and FMF.
Case Presentation. A 16-year-old boy of Turkish origin with a history of FMF presented
with localized tenderness of the heel and severe disability. MRI showed an enthesitis of the plantar fascia. Standard treatment of
FMF and enthesitis was not successful. After referral to a university hospital and expert opinion of a professor in rheumatology,
this enthesitis should be treated as an enthesitis related arthritis. With this treatment, our patient fully recovered 8 months after
the onset of the disease symptoms.
Conclusion. M694V mutation related enthesitis should be considered in FMF patients with
enthesitis. We would suggest treatment for enthesitis related arthritis in similar cases. This is of clinical importance because the
treatment is different from treatment of enthesitis or articular pain caused by FMF.
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NewsBot · Mar 30, 2018

Sacroiliitis in Children With Familial Mediterranean Fever.
Aydin F, Özçakar ZB, Çakar N, Çelikel E, Uncu N, Çelikel Acar B, Yalçinkaya F.
J Clin Rheumatol. 2018 Mar 29.

BACKGROUND/OBJECTIVE:
Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis. Various diseases were reported to be associated with FMF. The aim of this study was to investigate the frequency and characteristics of sacroiliitis in children with FMF.

METHODS:
Files of FMF patients who had been seen in 2 reference hospitals in Ankara were retrospectively evaluated. Patients with FMF and concomitant sacroiliitis were included to the study. All patients had magnetic resonance imaging evidence of sacroiliitis.

RESULTS:
Among 650 FMF patients, 17 (11 females, 6 males; mean age, 13.32 ± 4.24 years) (2.6%) of them were found to have sacroiliitis. Familial Mediterranean fever diagnosis was done prior to sacroiliitis diagnosis in 11 patients (65%) and concurrently or afterward in 6 patients (35%). Ten patients had isolated sacroiliitis, and 7 had associated diseases (5 enthesitis-related arthritis, 1 psoriatic arthritis, and 1 ulcerative colitis). Arthritis (59%), arthralgia (77%), leg pain (71%), heel pain (41%), and enthesitis (29%) were common complaints. Sacroiliac tenderness was detected in 77%, and M694V mutation in almost 90% of the patients. All patients received colchicine therapy. Additionally, 14 of them were treated with nonsteroidal anti-inflammatory drugs, 10 were on sulfasalazine treatment, and 7 of them were on biological agents.

CONCLUSIONS:
Sacroiliitis can be seen in patients with FMF during childhood, and M694V mutation seems to be a susceptibility factor for its development. Inflammatory low-back pain and leg and heel pain could suggest sacroiliitis.
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