What is the treatment for my Alpha-1 antitrypsin deficiency?

Question

Hello doctor,

I am 44 and was just diagnosed with Alpha-1 antitrypsin deficiency after years of being told I just had asthma. My pulmonologist finally ordered genetic testing after my lung function kept getting worse despite using all the inhalers. The results showed I have a ZZ genotype, and my AAT level is only 28 mg/dL when it should be over 100.

Now I am terrified because I have read that this condition can also cause liver disease, and my liver enzymes are already elevated; ALT is 78 and AST is 82. I have never smoked a day in my life, but my lungs are damaged like a smoker’s, according to my CT scan, which shows early emphysema changes.

I have three kids, ages eight, 12, and 15, and I am worried they might have inherited Alpha-1 antitrypsin deficiency too. My FEV1 is down to 58 percent predicted, and I get short of breath just doing laundry or going up the stairs. My doctor mentioned augmentation therapy with Prolastin, but my insurance company is fighting coverage.

I am also going through perimenopause, with irregular periods and hot flashes, which seem to make my breathing problems worse. Can this condition progress more quickly in women? And what happens if my liver starts to fail, too?

Please help.

Thank you.

Answer 1

Hello,

Welcome back to icliniq.com.

I understand your concern.

So thankfully, we already have the diagnosis, so our goal is now to slow (and ideally stop) further lung damage, protect the liver, and keep you feeling functional day-to-day.

I would highly recommend augmentation therapy for your lungs. If your insurance is resisting, you may ask your pulmonologist to submit a detailed letter including your genotype, level of AAT (alpha-1 antitrypsin deficiency), CT (computerized tomography) evidence of lung involvement, and your spirometry report. Ask to make sure to mention that you have never smoked and worsening symptoms despite inhalers; these points may help in getting approvals.

Use your inhalers exactly as prescribed, and ensure the inhaler technique is spot on. If you have not been prescribed any inhaler, please share with me your spirometry report and your blood eosinophil report, and I would need your complete history as well. It will keep your symptoms controlled and will reduce your chances of flare-ups. Pulmonary rehabilitation is worth its weight in gold; I would highly recommend it. I would advise you to get in touch with a respiratory physiotherapist and talk to your pulmonologist about it as well.

And since you already have lung changes, infections can increase your symptoms and disease process, so I would also recommend getting your vaccinations as well, especially pneumococcal, influenzae (flu), and COVID (coronavirus). Also, if you have not had hepatitis A and B vaccines, ask for them.

Your liver needs a quiet life. Cut alcohol completely. Keep your weight in the healthy category, and be cautious with over-the-counter medicines and herbal supplements. If you need pain relief, Paracetamol (Acetaminophen), but avoid painkillers without consultation. Get your liver functions done every six months and a yearly abdominal ultrasound. Most people stay stable with these measures; if liver disease progresses, there are various options, including medicinal and surgical, but you should not worry yet and rather do what you can to prevent progression for now.

As for whether the disease gets worse faster in women, there is no solid evidence that gender itself makes alpha-1 progress more quickly. Since you are going through perimenopause and having symptoms. Avoid estrogen as it passes through the liver; if you need treatment for symptoms, ask your gynecologist about non-hormonal options.

Please have all three children tested. A simple blood test will check AAT levels and genotype. Offer testing to siblings and parents, too.

I hope this helps.

Kindly follow up if you have more concerns.

Thank you.