alpha 1 antitrypsin deficiency

Emphysema due to smoking tends to cause bulla formation in the upper lobes, whereas if it is due to an inherited a1-antitrypsin deficiency, it tends to occur in the lower lobes. 

Smoke rises. 

The two guys at the bottom are wearing jeans because, y'know, it’s a genetic condition. 

Emphysema

Chronic obstructive pulmonary disease (COPD) is an umbrella term à emphysema, chronic bronchitis, certain types of bronchiectasis, and sometimes asthma. COPD = leading causes of death in the US - appears to be rising.

SYMPTOMS

  • Persistent cough + wheezing + sputum production
  • Tightness or pain in the chest + shortness of breath
  • (when progressed) Loss of appetite
  • Depression
  • Reduced sexual function
  • Trouble sleeping

Long term smoking is the leading cause of emphysema. Other risk factors include a deficiency of enzyme alpha-1-antitrypsin, air pollution, airway reactivity, heredity, male sex, and age.Most people with emphysema also have chronic bronchitis (inflammation of bronchi)

Hallmarks of Emphysema 

“pursed-lipbreathing.” The person with emphysema struggles to exhale completely, in an attempt to empty trapped air. They purse their lips, leaving only a small opening. Then, when they exhale, the lips block the flow of air, increasing pressure in the collapsed airways, and opening them, allowing the trapped air to empty.

“barrel chest,” where the distance from the chest to the back, which is normally less than the distance side to side, becomes more pronounced. This is a direct result of air becoming trapped behind obstructed airways.

Mechanism

  • causes shortness of breath due to over-inflation of the alveoli
  • the lung tissue around small bronchioles is destroyed/impaired making them unable to hold their shape during exhalation - making it difficult for the lungs to empty and the air becomes trapped in the alveoli.
  • Normal lung tissue looks like a new sponge. Emphysematous lung looks like an old used sponge, with large holes and a dramatic loss of “springy-ness” or elasticity.
  • An abnormal and permanent enlargement of air spaces distal to the terminal bronchioles
  • also severely affects capillaries + blood flow


Cigarette smoke (and other smoke inhalation including dust and air pollution)

  • Destroys lung tissue, which results in the obstruction of airflow, and it causes inflammation and irritation of airways that can add to airflow obstruction.
  • Cigarette smoke causes dysfunction of the cilia.
  • Long-term = cilia disappear from the cells lining the air passages. Without the constant sweeping motion of the cilia, mucous secretions cannot be cleared from the lower respiratory tract.
  • Smoke causes mucous secretion increase – coupled with above causes mucous build up 
  • providing bacteria with a rich source of food –> infection.

Smoking and the immune response

  • Lung immune cells cannot clear many particles (such as tar) that cigarette smoke contains.
  • Increase in susceptibility to lung infection
  • Inflammation caused by the immune system constantly attacking bacteria or tar from smoking leads to the release of destructive enzymes from the immune cells.
  • Over time, enzymes released during this persistent inflammation lead to the loss of proteins responsible for keeping the lungs elastic.
  • In addition, the tissue separating the air cells (alveoli) from one another also is destroyed.

Tests

  • Chest X-Ray – changes in lung are physical and visible.  Can also show infections.
  • Lung function tests (how much air your lungs can hold, how quickly your lungs can expel air during expiration, and how much reserve capacity your lungs have for increased demand)
  • Blood test for alpha-1-antitrypsin deficiency – only if family history. 
  • Blood tests for WBC count for infection
  • Arterial blood gas test (O2 + CO2 levels)

Treatment

Emphysema causes irreversible damage - treatment can only slow progression

  • Stop smoking: halt progression and should improve lung function 
  • Bronchodilators: cause the air passages to open more fully and allow better air exchange, usually the first medications for emphysema - mild cases eg = albuterol (taken with inhaler), fast acting and 1 dose provides relief for 4-6 hours – is a relief medication for periods of shortness of breath, but doesn’t cure. Tiotropium = long acting, more severe. Taken once a day and can extend life expectancy
  • Steroid medications:  decrease inflammation, however not all people will respond to steroid therapy. Orally or inhaled.
  • Surgery if severe eg lung transplant
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alpha 1 antitrypsin deficiency (by canadaqbank)

“Night-night, baby.”

My aunt was my best friend, my mentor, my non-romantic soul mate. She was diagnosed with a horrific and incurable disease that very few people even know exists (Alpha-1 Antitrypsin Deficiency) in 2003. She suffered through weekly IV infusions made with human plasma, surgeries, numerous medications, and being put on oxygen. She wouldn’t quit smoking, though, so she wasn’t a candidate for a lung transplant. Sometimes I wonder if she even wanted to live, knowing that was her only chance and she didn’t take it. We knew her time was limited, and her life in the last year or so was miserable - more or less confined to her bedroom. I spent a lot of time with her, aware that she was dying and that I needed to be with her as often as I could while she was alive.
She was taken to the ER for a stomach virus that made it hard for her to breathe. The night my grandma called and told me to come because she was dying, no one had told her that this was it. I cried and cried, and she tried to comfort me. I sat there with her, watching How The Grinch Stole Christmas and sharing her banana popsicle, enjoying her last bits of lucidity as she fought the morphine being pumped into her. Saying goodbye to her that night was awful. I was sure she would die before morning, but she was adamant that she was “going home - to a residence.” She didn’t want to die. They didn’t give her a choice. She was transferred to the hospice wing by the morning, and I spent the day with her after I got out of school. She had made me promise to do well on my finals that day, to try not to worry about her.
Our last conversation was unexpected. She woke up as I was about to head home, after watching her sleep for hours and wondering if she’d ever open her eyes. She asked how I did on my finals. “Aced them,” I told her. She was proud. No one was ever proud of me besides her. I should have stayed with her, since she was awake. I should have stayed even though it was uncomfortable and awkward to engage in small-talk when I wanted to be telling her how much she meant to me and how I would miss her. When I told her I had to get home, I hugged her. Those were her last words to me as I shut the door and cried my way down the hall and through the night. She never saw me again. When I came back the next day, they had her on a steady drip of morphine “to keep her comfortable.” To keep her from bitching and fighting to stay alive, more like it. The day after that, I was alone in her room with her unconscious body. I held her hand and told her that I would be okay, that she could go and be with my dad and hers, that she was my best friend and I loved her so much, but that it was okay for her to leave. Her death rattle started as soon as the nurse came in and interrupted my “goodbyes,” and she died holding my hand. She was 39, and I was 17. I’m 24, now. And I still can’t think about her without crying. I miss her so much.
I love you, Aunt Lori. Sleep well.