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

Research output: Contribution to journalArticle


Background: An MZ phenotype alpha-1 antitrypsin [AAT] deficiency and fibromyalgia syndrome [FMS] patient participated in a trial with AAT-intravenous augmentationtherapy [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.


  • Ignacio Blanco Blanco
  • Aurora Astudillo
  • Francisco Dominguez Iglesias
  • Sabina Janciauskiene
  • Victoriano Carcaba Fernandez
  • Cesar Gallo Alvaro
  • Hortensia Canto Argiz
  • Frederick Joseph de Serres
  • Enrique Fernandez Bustillo
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Rheumatology and Autoimmunity


  • alpha-1 antitrypsin augmentation therapy, deficiency, alpha-1 antitrypsin, Fibromyalgia syndrome
Original languageEnglish
Pages (from-to)167-172
JournalJournal of Musculoskeletal Pain
Issue number2
Publication statusPublished - 2010
Publication categoryResearch