Estimates of the Prevalence and Number of Fibromyalgia Syndrome Patients and Their Alpha-1 Antitrypsin Phenotypic Distribution in Ten Countries – Source: Journal of Musculoskeletal Pain, Vol 15, #4 2007

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[Note: Alpha-1 Antitrypsin is a protein made by the liver and released into the bloodstream. AAT deficiency is an inherited disorder that may be moderate or severe depending on the combination of genetic alleles. A blood test can detect it, and it can be treated but not cured. Depending on their allele patterns, some individuals with this disorder develop impaired lung or liver function.]

Objectives: During the last few years, clinical, epidemiological, and pathological evidence has suggested that inherited alpha-1 antitrypsin [AAT] deficiency might play a role in the development of the Fibromyalgia syndrome [FMS], probably because of the loss of AAT anti-inflammatory efficacy. The objective of this study was to estimate the prevalence and number of FMS patients, and their AAT phenotypic distribution worldwide.

Methods: A critical review selecting reliable studies on the subject.

Results: Studies on AAT gene frequencies and FMS prevalence were retrieved for ten countries worldwide, namely Canada, the United States of America [USA], Denmark, Finland, Germany, Italy, the Netherlands, Spain, Sweden, and Pakistan.

The severe deficiency Z allele was found in all these countries, with:

  • Very high frequencies in Denmark and Sweden [23 and 27 per 1,000, respectively],


  • High frequencies in Italy and Spain [16 and 17 per 1,000],

  • Intermediate frequencies in Germany, the Netherlands, Canada, and the USA [10 to 14 per 1,000],


  • And a low frequency in Pakistan [9 per 1,000].

  • The calculated prevalence of AAT deficiency and the number of FMS patients with AAT deficiency were:

  • 1/10 and 25,408 in Canada,


  • 1/11 and 478,681 in the US,


  • 1/9 and 3,124 in Denmark,


  • 1/ 36 and 726 in Finland,


  • 1/16 and 48,523 in Germany,


  • 1/13 and 84,876 in Italy,


  • 1/15 and 9,639 in the Netherlands,


  • 1/4 and 114,359 in Spain,


  • 1/11 and 9,065 in Sweden,


  • And 1/25 and 85,965 in Pakistan.

  • Our calculations predict that AAT deficiency would remain undetected in around nine percent of FMS patients, with about eight percent of them carrying moderate deficiency phenotypes [MS, SS, and MZ], and less than one percent with severe deficiency phenotypes [SZ and ZZ].

    Conclusions: Therefore, AAT phenotype characterization should be recommended in FMS patients and the possible efficacy of AAT replacement therapy in severe deficiency FMS patients should warrant further studies.

    Source: Journal of Musculoskeletal Pain, 2007. Vol 15, Issue 4, pp. 9-23. DOI: 10.1300/J094v15n04_03, by Blanco I, de Serres F, Janciauskiene S, Arbesú D, Fernández-Bustillo E, Cárcaba V, Nita I, Astudillo A. Department of Internal Medicine, Hospital Valle del Nalón, Langreo, Spain [E-mail: Ignacio.blanco@sespa.princast.es]

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