Pediatric Rheumatology

, 13:P78 | Cite as

Featuring the phenotype of the FMF prototype

  • I Ben-Zvi
  • Y Kassel
  • O Kukuy
  • C Herskovizh
  • C Grossman
  • A Livneh
Open Access
Poster presentation
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Keywords

Public Health Gold Genetic Variation Physical Examination Severe Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Background

The presentation of FMF is extremely variable, ranging from a quiescent to severe disabling disease. The M694V mutation is one of approximately 300 published genetic variations of MEFV and is thought to be associated with a typical clinical picture of the disease, but studies featuring the phenotype of homozygous M694V phenotype are meager.

Objectives

To describe the clinical trait of M694V homozygous FMF as compared to the phenotype of FMF with mixed MEFV genotypes.

Patients and methods

Fifty seven FMF patients homozygous for the M694V genotype were compared to 56 patients carrying other mutations. A questionnaire, including items related to demographic and clinical features was completed for each patient based on interview, physical examination and file notes.

Results

Compared with the control group, more patients, homozygous for the M694 mutation, suffered from a severe disease (p=0.001), had higher frequency of attacks before and during colchicine treatment (p=0.0001 and 0.0007, respectively), had more related diseases (p=0.0373) and needed higher dose of colchicine to control their disease (p=0.0001). Most other features tested (Table 1) appeared to be more pronounced in M694V homozygous patients (either with or without statistical significance).

Conclusion

The phenotype of FMF, as manifested in M694V homozygous patients, is the gold standard, to which other FMF presentations should be compared.

Table 1

Parameter

694 Homozygous (N=57)

Other mutations (N=56)

P

Average length of attack (days)

2.66±1.5

3.03±1.2

0.073

Abdominal attacks

50 (87.7%)

48 (85.7%)

0.788

Arthritis attacks

52 (91.3%)

28 (50%)

<0.0001

Pleuritis attacks

36 (46.2%)

18 (38.2%)

0.0013

Exertional leg-pain

47 (82.5%)

36 (64.3%)

0.034

ELE attacks

10 (17.5%)

3 (5.4%)

0.073

Attacks of fever alone

20 (35.1%)

12 (21.4%)

0.143

Average colchicine dose (mg/day)

1.9±0.48

1.48±0.54

0.0001

IV colchicine treatment

5 (8.8%)

0 (0%)

0.057

Proteinuria or amyloidosis

6 (10.5%)

1 (1.8%)

0.113

Anemia of chronic disease

14/53 (26.4%)

7/52 (13.5%)

0.142

Elevated acute phase reactants

10/18 (55.6%)

4/16 (25%)

0.092

Chronic renal failure

6 (10.5%)

0 (0%)

0.027

Chronic arthritis

11 (19.3%)

2 (3.6%)

0.015

Work days lost each month

4.4±7.2

2.6±4.6

0.718

Harm to quality of life

(1-10) 5.6±3.3

4.1±3

0.013

Number of attacks per year w colchicine

7.2±7.8

3.5±5.5

0.0007

Number of attacks per year w/o colchicine

23.6±9.3

15.6±11.7

0.0001

Crohn's disease

4 (7%)

2 (3.6%)

0.679

Ankylosing Spondylitis

3 (5.3%)

1 (1.8%)

0.619

Behcet's Disease

7 (12.3%)

1 (1.8%)

0.061

Henoch Schonlein Purpura

1 (1.8%)

0

1

All FMF associated diseases

17 (29.8%)

7 (12.5%)

0.0373

Copyright information

© Ben-Zvi et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Authors and Affiliations

  • I Ben-Zvi
    • 1
  • Y Kassel
    • 1
  • O Kukuy
    • 1
  • C Herskovizh
    • 1
  • C Grossman
    • 1
  • A Livneh
    • 1
  1. 1.Sheba Medical Center, Internal Medicine FRamat-GanIsrael

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