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Resp: Alpha-1 Antitrypsin Deficiency

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💥FREE MSRA PODCAST –Alpha-1 Antitrypsin Deficiency: The Silent Risk You Must Not Miss 🫁

In this high-yieldepisode, we break down Alpha-1 AntitrypsinDeficiency (A1ATD) — a frequently missed but exam-favourite topic.You’ll get crystal-clear insights on whatit is, why it matters, and how to diagnose and manage it.

 

🧠Key Learning in ThisEpisode:

✅Definition

A genetic condition causing low levels of alpha-1 antitrypsin (A1AT), aprotective lung protein. Without it, neutrophilelastase runs unchecked, destroying lung tissue.

 

🧬Genetics &Aetiology:

• SERPINA1 gene mutation on chromosome 14

• Inheritance: Autosomal recessive or co-dominant

• Key alleles: M = normal, S =slow, Z = severely deficient

• ZZ genotype = severe deficiency

• PiMZ = carrier with some risk, especially ifsmoker

• Named by electrophoretic mobility (M = medium, S = slow,Z = very slow)

 

📊Epidemiology:

• Common inCaucasian populations

• Severe deficiency(PiZZ) ≈ 1 in 2,000–5,000 in the UK

• Often underdiagnosed – may account for 5% of COPD cases

 

🚩Red Flags & RiskFactors:

• Early-onset COPD, especially in non-smokers

• Family history

• Environmentaltriggers: smoking, fumes, pollutants

• May present with liver disease (e.g. cirrhosis, hepatocellularcarcinoma)

• Neonatal jaundiceor cholestasis in infants

 

🫁Pulmonary Features:

• Panacinar emphysema, especially lower lobes

• Chronic cough,dyspnoea, wheeze

• May mimic asthma,bronchiectasis

 

🧪Investigations:

  1. Serum A1AT level
  1. Phenotyping or genotyping for MSZ mutations
  2. PFTs – obstructive pattern
  3. HRCT chest – panacinar emphysema
  4. LFTs, liver ultrasound ± biopsy
  5. Family screening – essential

 

💊ManagementEssentials:

• 🚭 Stop smoking – the most important intervention

• Avoid passivesmoke & occupational exposures

• Inhaled bronchodilators ± steroids

• Vaccinations: Pneumococcal + annual flu

• Augmentation therapy (IV A1AT) – limited UKaccess (per NICE)

• Pulmonary rehab, O2, transplant in severedisease

• Liver transplant cures the deficiency (newliver = A1AT production)

 

⚠️Complications toRemember:

• COPD/emphysema

• Bronchiectasis

• Liver cirrhosis, portal hypertension

• Hepatocellular carcinoma

• Respiratoryfailure

 

📎More MSRA Resourceson A1AT Deficiency:

📖 Revision Notes: https://www.passthemsra.com/topic/alpha-1-antitrypsin-deficiency-revision-notes/

🧠 Flashcards: https://www.passthemsra.com/topic/alpha-1-antitrypsin-deficiency-flashcards/

💬 Accordion Q&A: https://www.passthemsra.com/topic/alpha-1-antitrypsin-deficiency-accordion-qa-notes/

🚀 Rapid Quiz: https://www.passthemsra.com/topic/alpha-1-antitrypsin-deficiency-rapid-quiz/

🌐 Main Site: https://passthemsra.com

🎁 Free Content: https://freemsra.com

 

🎓Master all thingsRespiratory with our full course:

🫁Respiratory for the MSRA Course – Complete, concise, and mapped to the MSRAsyllabus.

 

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