Books & Resources

"Alpha-1 Antitrypsin Deficiency: A Medical Dictionary, Bibliography, and Annotated Research Guide"

• Authors: Icon Health Publications
• Description: Comprehensive medical reference covering AATD terminology, research summaries, and clinical information. Helpful for understanding medical literature and terminology.
• Best For: Those wanting to understand medical and scientific aspects of AATD
• Where to Find: Amazon, medical libraries, online bookstores

"Living with Alpha-1 Antitrypsin Deficiency" (Patient Guide)

• Publisher: Alpha-1 Foundation
• Description: Practical guide covering daily life with AATD, treatment options, emotional aspects, family screening, and advocacy. Written specifically for patients and families.
• Best For: Newly diagnosed individuals and families
• Where to Find: Free download from Alpha-1 Foundation website (alpha1.org)

"The Alpha-1 Primer: A Patients' Guide" (Updated Edition)

• Author: David Lomas, MD and various contributors
• Description: Clear, accessible explanation of AATD genetics, diagnosis, symptoms, treatment, and management strategies from leading AATD experts.
• Best For: Understanding the basics and beyond
• Where to Find: Available through AATD advocacy organizations

"Breathe: A Memoir of Living with Alpha-1 Antitrypsin Deficiency"

• Author: Various patient memoirs and collections
• Description: Personal stories from individuals living with AATD, sharing experiences, challenges, and triumphs. Provides emotional connection and practical insights.
• Best For: Feeling less alone, learning from others' experiences
• Where to Find: AATD community websites, patient advocacy groups

"Alpha-1 Antitrypsin Deficiency: Clinical Perspectives and Approaches"

• Editors: Various medical experts
• Description: Clinical textbook covering diagnosis, pathophysiology, management across specialties, and current research. Evidence-based approach for medical professionals.
• Best For: Physicians, nurses, respiratory therapists, medical students
• Where to Find: Medical publishers, professional medical libraries

"Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment" (AATD Chapter)

• Editors: Aubrey Milunsky, Jeff Milunsky
• Description: Includes comprehensive chapter on AATD genetics, prenatal diagnosis, and genetic counseling considerations.
• Best For: Genetic counselors, OB-GYNs, medical geneticists
• Where to Find: Wiley-Blackwell publishers, medical bookstores

"Protease Inhibitors: Alpha-1 Antitrypsin and Related Serpins"

• Editors: Various research scientists
• Description: Scientific text exploring the molecular biology, biochemistry, and therapeutic aspects of protease inhibitors including AAT.
• Best For: Researchers, academic physicians, PhDs
• Where to Find: Academic publishers, university libraries

"How to Be Sick: A Buddhist-Inspired Guide for the Chronically Ill and Their Caregivers"

• Author: Toni Bernhard
• Description: While not AATD-specific, this book offers profound wisdom on living well with chronic illness, managing emotional challenges, and finding peace.
• Best For: Anyone struggling with the emotional aspects of chronic illness
• Where to Find: Major bookstores, Amazon

"The Chronic Illness Workbook: Strategies and Solutions for Taking Back Your Life"

• Author: Patricia Fennell
• Description: Practical exercises and strategies for managing life with chronic conditions, including AATD. Addresses physical, emotional, and social aspects.
• Best For: Developing coping strategies and life management skills
• Where to Find: Bookstores, online retailers

"Sick: A Memoir"

• Author: Porochista Khakpour
• Description: Powerful memoir about living with chronic Lyme disease—resonates with many chronic illness experiences including diagnostic odysseys and medical uncertainty.
• Best For: Feeling understood, validation of chronic illness experience
• Where to Find: Major bookstores, libraries

"My Body is Special: Alpha-1 Antitrypsin Deficiency" (Children's Educational Book)

• Description: Age-appropriate explanation of AATD for children, helping them understand their diagnosis or a family member's condition.
• Best For: Children ages 5-12
• Where to Find: AATD advocacy organizations

"Taking Your Medicine: A Short Guide for Patients"

• Author: Various medical education publishers
• Description: Helps children understand medical treatments, doctor visits, and managing health conditions.
• Best For: Children undergoing treatment
• Where to Find: Pediatric health organizations

Alpha-1 Foundation

Website: alpha1.org

• World's largest AATD advocacy and research organization
• Patient education materials
• Research funding and updates
• Clinical Resource Centers directory
• Support groups and community
• Free testing programs
• Educational webinars and events

AlphaNet

Website: alphanet.org

• Case management and disease management services
• Free educational programs
• Patient assistance programs
• Resource coordination
• AlphaNet Registry for research
• Nurse educators available

Alpha-1 Global

Website: alpha1global.org

• International AATD organization
• Global research initiatives
• Worldwide patient registry
• International collaboration
• Research updates
• Global advocacy efforts

Canadian Alpha-1 Awareness Association

Website: alpha1canada.ca

• Resources for Canadian patients
• Healthcare system navigation
• Provincial support groups
• Advocacy for Canadian policies
• Educational materials in English and French

Alpha-1 UK Support Group

Website: alpha1.org.uk

• Resources for UK patients
• NHS navigation support
• UK-specific treatment access information
• Local support groups
• Advocacy within UK healthcare system

Alpha One South Africa

Website: alphaonesa.org.za

• Resources for South African patients
• Awareness campaigns
• Healthcare access support
• Regional support groups

National Organization for Rare Disorders (NORD)

Website: rarediseases.org

• AATD information and resources
• Rare disease advocacy
• Financial assistance programs
• Clinical trial database
• Patient assistance programs

Genetic and Rare Diseases Information Center (GARD)

Website: rarediseases.info.nih.gov

• NIH resource for AATD information
• Genetics information
• Clinical research resources
• Expert specialists directory

PubMed/MEDLINE

Website: pubmed.ncbi.nlm.nih.gov

• Search: "Alpha-1 Antitrypsin Deficiency"
• Access to published medical research
• Latest studies and clinical trials
• Scientific evidence on AATD

ClinicalTrials.gov

Website: clinicaltrials.gov

• Search: "Alpha-1 Antitrypsin"
• Current clinical trials recruiting patients
• Study details and eligibility criteria
• Contact information for trial sites

Cochrane Library

Website: cochrane.org

• Evidence-based medicine reviews
• Systematic reviews of AATD treatments
• Clinical practice guidelines

OMIM (Online Mendelian Inheritance in Man)

Website: omim.org

• Entry #613490 (SERPINA1)
• Genetic information about AATD
• Inheritance patterns
• Molecular genetics

American Lung Association

Website: lung.org

• COPD resources applicable to AATD
• Pulmonary rehabilitation information
• Better Breathers support groups
• Lung health education

COPD Foundation

Website: copdfoundation.org

• Resources for emphysema management
• Exercise and nutrition guidance
• Support groups
• Educational webinars

American Association for Respiratory Care

Website: aarc.org

• Respiratory therapy information
• Patient education materials
• Equipment resources

American Liver Foundation

Website: liverfoundation.org

• AATD-related liver disease information
• Liver health resources
• Support groups
• Transplant information

Children's Liver Disease Foundation (UK)

Website: childliverdisease.org

• Pediatric AATD liver disease
• Family support
• Research funding

National Society of Genetic Counselors

Website: nsgc.org

• Find a genetic counselor
• Understanding genetic testing
• Family planning resources
• Genetic discrimination information

Genetic Alliance

Website: geneticalliance.org

• Genetic condition resources
• Advocacy and policy
• Community connections

Health Union - Alpha-1 Community

Website: alpha-1.net

• Patient community forums
• Personal stories
• Q&A with experts
• Daily life tips

The Mighty

Website: themighty.com

• Search: "Alpha-1" or "rare disease"
• Chronic illness community
• Personal stories
• Mental health resources

National Alliance on Mental Illness (NAMI)

Website: nami.org

• Mental health resources
• Coping with chronic illness
• Depression and anxiety support
• Find local support

Available from Alpha-1 Foundation (alpha1.org):

• "What is Alpha-1 Antitrypsin Deficiency?" (Introduction)
• "Understanding Your Alpha-1 Test Results"
• "Alpha-1 and Your Liver"
• "Alpha-1 and Your Lungs"
• "AAT Augmentation Therapy: What to Expect"
• "Family Screening Guide"
• "Living Well with Alpha-1"
• "Travel with Alpha-1"
• "Alpha-1 and Employment"
• "Alpha-1 and Insurance"
• "Pregnancy and Alpha-1"
• "Children and Alpha-1"

Available from AlphaNet (alphanet.org):

• "AlphaNet's Big Fat Reference Guide" (Comprehensive resource)
• "Nutrition and Alpha-1"
• "Exercise and Alpha-1"
• "Emotional Wellness"
• "Coordinating Your Care"

Mark Egly Foundation Resources:

• "Understanding the 152 Autoimmune Diseases Connected to AATD"
• "Age Relevance to Diagnosis: Why Early Detection Matters"
• "Changing Standards of Care: Advocacy Guide"
• "Alpha1 360° Program Overview"
• "Alpha1 Friend Network Guide"
• Available at markeglyfoundation.com/

Available from Medical Organizations:

• "Clinical Practice Guidelines for AATD" (American Thoracic Society/ European Respiratory Society)
• "AATD Diagnostic Algorithm" (Various specialty organizations)
• "Augmentation Therapy Protocols"
• "Genetic Testing and Counseling Guidelines"
• "Pediatric AATD Management"

YouTube Channels

• Alpha-1 Foundation Official Channel
• AlphaNet Disease Management
• Patient story collections
• Treatment demonstrations
• Educational webinar recordings

Documentaries

• "Breathless: The Alpha-1 Story" (Patient documentary)
• Various patient journey mini-documentaries on AATD organization websites

Landmark Papers:

• "Alpha-1 Antitrypsin Deficiency: A Common Condition?" - Stoller & Aboussouan (Various journals)
• "The Serpinopathies and Conformational Dementia" - Lomas et al.
• "Alpha-1 Antitrypsin Deficiency: Memorandum from a WHO Meeting" (Bulletin WHO)
• "Systemic Manifestations of AATD" - Various recent publications

Search Strategies:

• PubMed: "Alpha-1 Antitrypsin Deficiency [MeSH]"
• PubMed: "SERPINA1" AND "autoimmune"
• PubMed: "Alpha-1 Antitrypsin" AND "Alzheimer"
• PubMed: "Alpha-1 Antitrypsin" AND "cancer"

• Alpha-1 Foundation Research Newsletter - Quarterly updates on funded research
• Alpha-1 Global Research Updates - International research highlights
• Mark Egly Foundation Research News - Latest findings on systemic AATD effects

General Health Apps:

• MyChart / Patient Portals - Access your medical records
• Apple Health / Google Fit - Track activity and vital signs
• Pulse Oximeter Apps - Monitor oxygen saturation (requires compatible device)

AATD-Specific:

• Alpha1 360° App (Mark Egly Foundation) - Coming 2026: Comprehensive AATD management
• AlphaNet App - Disease management support
• Treatment Tracker - Log infusions, symptoms, appointments

• Breathe2Relax - Breathing exercise app
• Pulmonary Rehabilitation videos (YouTube, lung.org)
• Tai Chi for COPD - Videos and guides
• Chair exercises for limited mobility

• Medisafe - Medication reminders
• MyTherapy - Treatment tracking
• PillPack/Amazon Pharmacy - Medication management and delivery

• GeoSure - Air quality monitoring while traveling
• AirVisual - Real-time air quality worldwide
• Altitude calculator - Elevation and oxygen level information
• Medical travel cards - Carry information about AATD and treatments

AAT Therapy Assistance:

• CSL Behring Patient Support Program - For Zemaira patients
• Grifols Plasma Alliance - For Prolastin-C patients
• Takeda Oncology Patient Support - For Glassia patients
• Octapharma Patient Assistance - For various AAT products

General Assistance:

• HealthWell Foundation - Copay assistance for chronic conditions
• Patient Advocate Foundation - Insurance issues, copay relief
• NeedyMeds - Comprehensive database of patient assistance programs
• RxAssist - Prescription assistance programs
• Medicare.gov Extra Help - For prescription drug costs

Resources:

• Patient Advocate Foundation - Insurance appeals, denials
• Alpha-1 Foundation Insurance Guide
• AlphaNet Case Management - Insurance coordination
• State Health Insurance Assistance Programs (SHIP) - Medicare help

Social Media Groups:

• Facebook Groups:
• "Alpha-1 Antitrypsin Deficiency Support Group"
• "Alpha-1 Warrior Community"
• "Parents of Children with Alpha-1"
• "Young Adults with Alpha-1"
• Regional groups by country/state

Forums:

• Alpha-1.net Community Forums - Health Union platform
• Mark Egly Foundation Alpha1 Friend Network - Comprehensive platform
• Reddit r/Alpha1 - Informal community discussions
• Inspire.com Alpha-1 Community

Finding Local Groups:

• Alpha-1 Foundation Support Group Directory (alpha1.org)
• Better Breathers Clubs (American Lung Association)
• Hospital-based support groups (check local hospitals with pulmonary programs)
• AlphaNet-facilitated groups

• Alpha-1 Foundation Helpline: 1-800-GO-ALPHA-1
• AlphaNet Coordinators: 1-800-577-2586
• Mark Egly Foundation: 1-800-MARK-EGLY

Monthly Educational Programs:

• Alpha-1 Foundation Webinars - Various topics, recorded
• AlphaNet Education Series - Disease management focus
• Mark Egly Foundation "Ask the MD" - Expert Q&A sessions
• Specialty-specific webinars (pulmonary, hepatic, genetic, etc.)

Major Events:

• Alpha-1 Foundation National Education Conference - Typically summer, varies by location
• Alpha-1 Global Congress - International conference, rotating locations
• Mark Egly Foundation Alpha1 Summit - Comprehensive multi-day event
• Regional Alpha-1 Symposia - Throughout the year, various locations

• Alpha-1 Foundation CME Programs
• Mark Egly Foundation Uniting Doctors Symposium
• Medical school grand rounds (check local academic medical centers)
• Respiratory Care Week programs

Twitter/X:

• @Alpha1Foundation
• @AlphaNet
• @MarkEglyFound
• #Alpha1Awareness
• #RareDiseaseDay

Instagram:

• @alpha1foundation
• @alphanetdisease
• Patient advocacy accounts
• Inspirational Alpha-1 warriors

LinkedIn:

• Alpha-1 Foundation
• AATD research groups
• Professional medical discussions

General Rare Disease:

• "Once Upon a Gene" - Rare disease stories
• "The Waiting Room Revolution" - Patient advocacy
• "Healthcare on the Rocks" - Healthcare system navigation

Chronic Illness:

• "The Chronic Illness Podcast"
• "ChronicBabe"
• "Life Interrupted" - Chronic condition experiences

Medical Science:

• "This Podcast Will Kill You" - Has covered AATD
• "Sawbones" - Medical history and science
• Medical specialty podcasts occasionally feature AATD

Alpha-1 Foundation Resource Library

• Patient education materials
• Research abstracts
• Clinical guidelines
• Treatment information
• Support resources
• Available at alpha1.org

Mark Egly Foundation Wisdom Library

• Patient-contributed tips and strategies
• Collective experience database
• Practical life hacks
• Treatment insights
• Available at markeglyfoundation.com/

Genetic Testing Information

• GeneReviews: AATD chapter with comprehensive genetics information
• ClinGen: Clinical genome resource
• GTR (Genetic Testing Registry): Information about AATD genetic tests

Respiratory:

• American Journal of Respiratory and Critical Care Medicine
• European Respiratory Journal
• COPD: Journal of Chronic Obstructive Pulmonary Disease
• Respiratory Research

Hepatology:

• Hepatology
• Journal of Hepatology
• Liver International

Genetics:

• American Journal of Human Genetics
• Journal of Medical Genetics
• Genetic Testing and Molecular Biomarkers

General Medical:

• New England Journal of Medicine
• The Lancet
• Journal of the American Medical Association (JAMA)

• Alpha-1 Foundation Newsletter - Quarterly, free subscription
• AlphaNet News - Regular updates for patients
• Mark Egly Foundation Research News - Latest discoveries and connections
• Rare Disease Report - Covers AATD among other conditions

United States:

• Alpha-1 Foundation (alpha1.org)
• AlphaNet (alphanet.org)
• Mark Egly Foundation (markeglyfoundation.com/)

Canada:

• Canadian Alpha-1 Awareness Association (alpha1canada.ca)
• Canadian Lung Association resources

United Kingdom:

• Alpha-1 UK Support Group (alpha1.org.uk)
• British Lung Foundation

Europe:

• Alpha-1 Plus (Germany) - alpha1-deutschland.de
• Association Française des Malades du Déficit en Alpha-1 Antitrypsine (France)
• Alpha-1 Spain - alfa1.es
• Alpha-1 Italia - alfa1at.org
• Various European country organizations

Australia/New Zealand:

• Alpha-1 Australia
• Rare Voices Australia

South Africa:

• Alpha One South Africa (alphaonesa.org.za)

Latin America:

• Latin American Registry and Research Network
• Country-specific patient organizations

Available Languages:

• Spanish/Español
• French/Français
• German/Deutsch
• Italian/Italiano
• Portuguese/Português
• Mandarin Chinese/中文
• Japanese/日本語
• Arabic/العربية
• Check organization websites for current translations

• "Alpha-1 and Pregnancy: What You Need to Know" (Alpha-1 Foundation)
• Genetic counseling organization resources
• Maternal-fetal medicine specialist connections
• Preconception planning guides

• "When Your Child Has Alpha-1" (Parent guide)
• Pediatric pulmonology resources
• School accommodation templates
• Growth and development tracking
• Transition to adult care planning

• "Alpha-1 and Lung Transplantation"
• "Alpha-1 and Liver Transplantation"
• United Network for Organ Sharing (UNOS) - unos.org
• Transplant center resources
• Post-transplant support groups

• Americans with Disabilities Act (ADA) resources
• Family Medical Leave Act (FMLA) information
• Disability benefits guidance (Social Security)
• Workplace accommodation request templates
• Legal advocacy organizations

• "Coping with Chronic Illness" guides
• Therapist finder tools (Psychology Today, NAMI)
• Crisis support: National Suicide Prevention Lifeline 988
• Depression and anxiety resources specific to chronic illness
• Caregiver burnout prevention

• ✉️ Alpha-1 Foundation Newsletter (quarterly)
• ✉️ AlphaNet News (monthly)
• ✉️ Mark Egly Foundation Updates (monthly)
• ✉️ Alpha-1 Global Newsletter (bi-monthly)

• ✉️ NORD Rare Disease Report
• ✉️ Global Genes Patient Advocacy Newsletter

• ✉️ American Lung Association Updates
• ✉️ COPD Foundation News

• ✉️ PubMed automated search alerts (set up for "Alpha-1 Antitrypsin")
• ✉️ ClinicalTrials.gov new study alerts

Start Here:

• Read "Living with Alpha-1" patient guide (Alpha-1 Foundation)
• Watch introductory videos on alpha1.org
• Join Alpha1 Friend Network (markeglyfoundation.com/)
• Request peer mentor
• Attend "AATD 101" webinar or orientation
• Connect with AlphaNet for disease management support

Then:

• Explore topic-specific resources as questions arise
• Join online community for support
• Attend local support group
• Register for Alpha1 360° program

Stay Current:

• Subscribe to research newsletters
• Attend annual conferences
• Participate in clinical trials database review
• Read latest research abstracts
• Contribute your wisdom to community platforms

Give Back:

• Become peer mentor
• Share your story
• Contribute to research registries
• Advocate for policy changes

Essential Resources:

• Genetic counseling information
• Family screening guides
• Support groups for family/caregivers
• Understanding inheritance patterns
• "When Your Loved One Has Alpha-1" guides

Professional Resources:

• Clinical practice guidelines
• CME programs
• Physician-to-physician consultation (Ask the MD)
• Research literature
• Patient education materials to distribute

The Mark Egly Foundation commits to:

• ✅ Quarterly reviews of all listed resources
• ✅ Addition of new books and materials as published
• ✅ Verification of website links and accuracy
• ✅ Community feedback integration
• ✅ Expert review of medical content
• ✅ Updates based on latest research

Last Updated: December 2025

Next Review: March 2026

Have a book, website, or resource that should be included?

We welcome community recommendations!

Submit suggestions to: resources@markeglyfoundation.com

Include:

• Resource name and description
• Why it's helpful
• Where to find it
• Your relationship to the resource (patient, author, provider, etc.)

All suggestions reviewed by Foundation staff and Medical Advisory Board.

Look for:

• ✅ Author credentials and expertise
• ✅ Publication date (recent is better for medical info)
• ✅ Evidence-based information
• ✅ Peer review or expert review
• ✅ Reputable publisher or organization
• ✅ Clear sources and citations
• ✅ Balanced perspective
• ✅ No commercial bias

Be Cautious of:

• ❌ Miracle cure claims
• ❌ Single product promotion
• ❌ Lack of author credentials
• ❌ No sources or citations
• ❌ Extreme or fear-based language
• ❌ Commercial bias
• ❌ Outdated information (>5 years for medical content)
• ❌ Contradicts established medical evidence

• Ask your healthcare provider
• Check with Alpha-1 Foundation or other established organizations
• Post question in reputable community forums
• Contact Mark Egly Foundation for resource vetting

Books:

• "Living with Alpha-1" patient guide
• A personal memoir by someone with AATD
• A chronic illness coping book

Websites Bookmarked:

• Alpha-1 Foundation (alpha1.org)
• Mark Egly Foundation (markeglyfoundation.com/)
• PubMed (for research)
• Your online support community

Downloaded Materials:

• "Understanding Your Test Results"
• "Family Screening Guide"
• Topic guides for your specific concerns (lung health, liver health, pregnancy, etc.)

Apps Installed:

• Alpha1 360° (when available)
• Medication reminder
• Health tracking app
• Air quality monitor

Contacts Saved:

• Alpha-1 Foundation helpline
• AlphaNet coordinator
• Your peer mentor
• Local support group organizer
• AATD specialist physicians

"Can't Live Without" Resources (Patient Survey Results):

• 🥇 Alpha-1 Foundation website and helpline
• 🥈 Alpha1 Friend Network online community
• 🥉 AlphaNet case management support
• Local support group connections
• "Big Fat Reference Guide" (AlphaNet)
• Peer mentorship programs
• Ask the MD expert access
• Facebook support groups
• Annual conferences
• Patient educational webinars

Most Life-Changing Books:

• "How to Be Sick" (chronic illness wisdom)
• "Living with Alpha-1" (practical guidance)
• Patient memoirs ("I'm not alone!")

Most Helpful Online Communities:

• Alpha1 Friend Network
• Facebook Alpha-1 Support Groups
• Alpha-1.net forums

Educational Materials (Free Downloads):

• All Alpha-1 Foundation patient guides
• AlphaNet "Big Fat Reference Guide"
• Mark Egly Foundation educational materials
• Genetic counseling information sheets
• Treatment decision guides

Free Programs:

• AlphaNet disease management services
• Alpha-1 Foundation support programs
• Mark Egly Foundation Alpha1 360° (registration free)
• Peer mentorship programs
• Online support communities
• Educational webinars

Free Testing:

• Alpha-1 Foundation free testing program
• Testing events at conferences and awareness days
• Research registry enrollment (with free testing)

Free Apps:

• Many health tracking apps (basic versions)
• Breathing exercise apps
• Air quality monitors

Can't find what you need? We can help.

Contact the Mark Egly Foundation:

• Email: resources@markeglyfoundation.com
• Phone: 1-800-ALPHA-HELP
• Website: markeglyfoundation.com/books-resources
• Live Chat: Available on website M-F, 9am-5pm ET

Tell us:

• What you're looking for
• What you've already tried
• Your specific situation or questions
• How you prefer to receive information (books, online, videos, etc.)

We'll help you:

• Find appropriate resources
• Navigate complex information
• Connect with experts
• Access educational materials
• Join relevant communities

Information transforms:

• Confusion → Understanding
• Fear → Confidence
• Isolation → Connection
• Helplessness → Empowerment
• Reactive care → Proactive management
• Suffering → Thriving

The right resources at the right time can literally save your life—or dramatically improve its quality.

This collection represents decades of collective wisdom, cutting-edge research, patient experiences, and expert guidance—all available to you, right now.

You don't have to figure out Alpha-1 alone. These resources are your guides, your companions, your tools for living well.

This is your resource hub—return often as new needs arise.

The Mark Egly Foundation is continuously expanding this collection, ensuring you always have access to the best, most current information about Alpha-1 Antitrypsin Deficiency.

📚 Knowledge. Community. Empowerment. Resources.

Everything you need to navigate Alpha-1 with confidence.

Start exploring. Start learning. Start thriving.

Have questions about any of these resources? Want personalized guidance? Contact us anytime. We're here to help you find exactly what you need.

resources@markeglyfoundation.com | 1-800-ALPHA-HELP