CASE REPORT 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 Ignacio Blanco Blanco, MD Aurora Astudillo, PhD Francisco Dom´ ınguez Iglesias, PhD Sabina Janciauskiene, PhD Victoriano C´ arcaba Fern´ andez, PhD C´ esar Gallo Alvaro, MD Hortensia Canto Arg´ ız, PhD Frederick Joseph de Serres, PhD Enrique Fern´ andez Bustillo, PhD ABSTRACT. Background: An MZ phenotype alpha-1 antitrypsin [AAT] deficiency and fi- bromyalgia 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 Ignacio Blanco Blanco, MD, and Hortensia Canto Arg´ ız, PhD, Department of Internal Medicine, Unit of Respiratory Diseases, Valle del Nal´ on Hospital, Principado de Asturias, Spain. Aurora Astudillo, PhD, Department of Pathology, Hospital Universitario Central de Asturias, Principado de Asturias, Spain. Francisco Dom´ ınguez Iglesias, PhD, Department of Pathology, Hospital Valle del Nal´ on, Principado de Asturias, Spain. Sabina Janciauskiene, PhD, Department of Medicine, Malm ¨ o University Hospital, Malm¨ o, Sweden. Victoriano C´ arcaba Fern´ andez, PhD, and C´ esar Gallo Alvaro, MD, Department of Internal Medicine, Valle del Nal´ on Hospital, Principado de Asturias, Spain. Frederick Joseph de Serres, PhD, Center for the Evaluation of Risks to Human Reproduction, Environmental Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA. Enrique Fern´ andez Bustillo, PhD, Biostatistics Unit, Central University Hospital of Asturias, Principado de Asturias, Spain. Journal of Musculoskeletal Pain, Vol. 18(2), 2010 Available online at www.informaworld.com/WJMP © 2010 Informa Healthcare USA, Inc. All rights reserved. doi: 10.3109/10582452.2010.483962 167 J Muscoskeletal Pain Downloaded from informahealthcare.com by Universidad Miguel Hernandez on 07/06/10 For personal use only.