[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:
The calculated prevalence of AAT deficiency and the number of FMS patients with AAT deficiency were:
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.firstname.lastname@example.org]