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Alpha-1 antitrypsin deficiency

Deficientia alpha-1-antitrypsini · Deficit alfa-1-antitrypsinu

What it is

A faulty protein made in the liver fails to protect the lungs from enzymes — early emphysema — and can clog the liver.

Symptoms & signs

  • Breathlessness and wheeze before 45
  • emphysema in a non-smoker or light smoker
  • chronic cough
  • newborn jaundice or liver disease
  • panniculitis (rare)

🚩 Get help if…

  • call 112 / 911 now Breathless at rest or blue lips
  • see a doctor soon Breathlessness that gets worse over weeks
  • see a doctor soon Yellow skin or eyes, or a baby yellow after 2 weeks
  • see a doctor soon Swelling of the belly or legs

Where it strikes

Medical treatment

  • Blood level and genotype test (ZZ)
  • stop smoking completely
  • inhalers and pulmonary rehabilitation
  • weekly IV augmentation therapy (alpha-1 protein) — slows lung-density loss; effect on survival unproven
  • lung or liver transplant

Natural & lifestyle

  • Avoid dust and fumes at work
  • limit alcohol to protect the liver
  • vaccines against flu and pneumonia

Emerging & experimental

  • RNA-interference drugs clearing the liver protein (fazirsiran)
  • base editing of the Z allele
  • inhaled augmentation

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Liver 'detox' herbs — anecdotal; some injure the liver anecdotal / traditional
  • Vitamin D and antioxidants — low vitamin D is linked with worse lungs; untested as treatment early / small studies

ICD codes