Fibromyalgia(FM) and Breathing Trouble – Alpha-1 – antitrypsin (AAT) deficiency

About 1-5% of FM might actually be an alpha-1-antitrypsin deficiency. This  condition causes run away inflammation that causes COPD but responds to AAT replacement therapy. Cases are presented.

 

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
Journal of Musculoskeletal Pain June 2010, Vol. 18, No. 2 , Pages 167-172
Ignacio Blanco Blanco, MD Aurora Astudillo, PhD Francisco Domínguez Iglesias, PhD Sabina Janciauskiene, PhD Victoriano Cárcaba Fernández, PhD César Gallo Alvaro, MD Hortensia Canto Argíz, PhD Frederick Joseph de Serres, PhD Enrique Fernández Bustillo, PhD
abstract here

I can always remember being taught one of the rare causes of Chronic Obstructive Lung Disease was AAT deficiency – inadequate blocking of tryptase – which causes run away inflammation in the lungs. I guess this inflammation occurs elsewhere and leads to multiple chronic tender points.

They mention 2 prior published cases:
J Rheumatol. 2004 Oct;31(10):2082-5.
Alpha1-antitrypsin replacement therapy controls fibromyalgia symptoms in 2 patients with PI ZZ alpha1-antitrypsin deficiency.
Blanco I, Canto H, de Serres FJ, Fernandez-Bustillo E, Rodríguez MC.  abstract here

Present case:

  • onset age 24 with erythema nodosum following delivery  – widespread pains , post exercise fatigue, muscle tension type headaches, variation with weather.
  • fleeting episodes of erratic multi-joint pain without joint swelling
  • Diagnosed with FM age 48; much worse with menopause at age 52
  • Symptoms:
    – severe fatigue
    – widespead pain
    insomnia
    – depression
    – short-term memory and concentration impairment
    – temporomandibular joint disorder
    – sore throat without objective anatomic lesions
    – daily morning stiffness.
  • slightly elevated liver function tests noted – SGOT, SGPT
  • age 56 – intermittent wheezing – 
  • AAT serum concentration was slightly decreased to 0.67 grams/liter; (normal 1–2.0 grams/liter]
  •  her proteinase inhibitor [PI] phenotype was MZ. – M1 is a common deficiency type and I presume Z means homozygous
  •  quadriceps muscle biopsy – scattered muscle and vessels deposits of AAT and ubiquitin, and a moderate muscle atrophy of type-2 fibers.
  • since poor control of her FM conventionally,  intravenous infusions of human purified AAT Trypsone  (Lab. Grifols Spain) 60 milligram/kilogram/week for six months.

Results on tender points – dropped to near zero except during a placebo period midterm:

Comment – tragic life wasted in pain. How could have things been better?

  • Atypical early onset (erythema nodosum)
  • abnormal liver function tests mild
  • eventual lung trouble
  • Low alpha-1 antitypsin levels – but not necessarily that bad
  • Genetic testing showing alpha-1 antitypsin deficiency variant
  • Quadraceps muscle testing showing AAT deposits ( muslce pathology is an art – wonder who would have to see to confirm that)
  • The will to get compassionate coverage for an otherwise very expensive treatment. 
  • Suspect doing AAT serum levels the big break but wonder how available is..

 

 

 

 
 
 

 

 

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3 Responses to Fibromyalgia(FM) and Breathing Trouble – Alpha-1 – antitrypsin (AAT) deficiency

  1. Annamarie Callanan says:

    Hi my name is Anna I have alpha one antitrysin blood deficiency. In recent years I have had strange lumps that move around my body it is thought to be paniculitis but not ever been properly diagnosed, in recent years I have also experienced pains in my hands and more recently in my legs and knees too. It is not always there and seems to come and go throughout the year I have been thinking I had arthritis but now I’m not so sure as reading this article it seems possible I could have Fibromyalgia…..

    I have had problems finding anyone to help me, almost as though they are scared to take my case on, I get passed around and it is. Very frustrating. I just need help and answers. If anyone can help or knows of any specialists and also information on finding out if I do have Fibromyalgia?
    I find it hard to get out of bed some days and just feel exhausted. Help…..
    ————————————-

    A recent study cast doubt on the effect of Antitrypsin treatments in FM:

    Musculoskeletal Care. 2012 Sep;10(3):178-83.
    α1-Antitrypsin in fibromyalgia: results of a randomized, placebo-controlled, double-blind and crossover pilot trial.
    Alegre C, Barceló M, Jardí R, Rodríguez-Frias F, Camprubí S.
    http://www.ncbi.nlm.nih.gov/pubmed/22190533
    Given that FM is a multidiemnsional illness, there are lots of reasons (including poor selection) that could have made this happen.

    Normally, I suggest pateints find a researcher, in their area, in their country and ask them to suggest where they should go next. However, there was a mulinational study of antitryspin in FM done some years ago , and the UK was not in it.
    Estimates of the Prevalence and Number of Fibromyalgia Syndrome Patients and Their Alpha-1 Antitrypsin Phenotypic Distribution in Ten Countries
    Journal of Musculoskeletal Pain 2007, Vol. 15, No. 4 , Pages 9-23
    I. Blanco et al
    http://informahealthcare.com/doi/abs/10.1300/J094v15n04_03

  2. Kristin says:

    I know this is an old thread, but I was just diagnosed with Alpha-1 and have suffered from FM and CFS since I was 26. I am now wondering if it has been AATD all along- at times the fatigue and pain have been disabling. Do you know of any current research into the link? Thank you.

  3. Anonymous says:

    I have recently been diagnosed with alpha l deffiency type sz and have fibermylgia for 5 years.also have asthma and breathing issues.dofhey give treatments for this with people with SZ

    Prolastin® (Bayer); Aralast®(Baxter); Zemaira®(CSL&Behring); and Glassia®(Kamada) are all apparently available in USA. Use for COPD is discussed here:
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529111/

    Some qualify it only for severe COPD yet others consider its use a missed opportunity:
    Alpha-1 Antitrypsin Deficiency — A Missed Opportunity in COPD?
    https://www.intechopen.com/books/copd-clinical-perspectives/alpha-1-antitrypsin-deficiency-a-missed-opportunity-in-copd-

    Use in fibromyalgia – three cases were described here but it is still experimental:
    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-14

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