Intravenous Infusions of Purified Alpha-1 Antitripsyn Effectively Controls Symptoms and Reverts Muscle Biopsy Changes in an MZ Alpha-1 Antitripsyn Deficiency and Fibromyalgia Syndrome Patient

ABSTRACT

Background: An MZ phenotype alpha-1 antitrypsin [AAT] deficiency and fibromyalgia syndrome [FMS] patient participated in a trial with AAT-intravenous augmentation-therapy [AAT-IV-AT] after failure of conventional therapeutic measures. Three quadricep biopsies were performed at different stages. The first one showed large aggregates of AAT and ubiquitin in myocytes and blood vessels, and moderate muscle atrophy, before AAT-IV-AT. The two remaining biopsies were performed while receiving AAT-IV-AT.

Findings: Remarkably good clinical response and histological improvement in the follow-up biopsies.

Conclusions: The clinical and histopathological efficacy of AAT-IV-AT evidenced in this patient should open new perspectives of research and management of AAT deficiency and FMS patients.

KEYWORDS. :

• Fibromyalgia syndrome
• alpha-1 antitrypsin
• alpha-1 antitrypsin deficiency
• alpha-1 antitrypsin augmentation therapy

ACKNOWLEDGEMENTS

The authors acknowledge the expert editorial assistance of Ms. Jimena Blanco.

The authors are indebted to Ms. Sue Edelstein of the NIEHS Arts and Photography for displaying figures to summarize the clinical events and facilitate comparisons of the results.

This study has been endorsed by the Carlos III Health Institute [Ministry of Health and Consumption, Madrid, Spain, project PI061798, October 2006] and by the Biohealth research office [OIB] of the Principado de Asturias.

Declaration of interest: Dr. Ignacio Blanco has a patent invention related to the use of AAT for the preparation of medicaments for the treatment of FMS. The remaining authors do not report conflicts of interest.