Rare Disease Education: Alpha-1 Antitrypsin Deficiency
Editor: Kelsey LaFayette, DNP, RN, FNP-C
"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people, each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.
To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.
Zebra Highlight: Alpha-1 Antitrypsin Deficiency
Imagine your body as a well-organized team, where each player has a specific role to keep everything running smoothly. While some excel at offense, others play best when defending others. If one of the key players that protects the lung and liver is unable to do its job properly, damage can build up quickly as they take more and more hits. Eventually, the entire team will be struggling to function correctly, causing issues that build up over time. This is essentially the mechanism of this month’s Zebra, alpha-1 anti-trypsin deficiency.
Alpha-1 antitrypsin deficiency is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin in the blood. Normally, this protein is produced in the liver and protects the body from damaging itself by the neutrophil elastase enzyme that is used in the fight against infections. Over time, there is destruction of lung tissue, causing chronic cough, wheezing, and repeated infections. There may also be progressive, degenerative changes in the lungs called emphysema. There may also be progressive destruction of liver tissue, causing symptoms such as yellow appearance of the skin, dark urine, pale stools, and itching. Eventually, the liver may be damaged to the point of cirrhosis, with all the complications that accompany it.
To learn more about the diagnosis and treatment of alpha-1 antitrypsin deficiency, watch the dedicated Osmosis video on YouTube and Osmosis.org.
Meet the Alpha-1 Champions
Meet the Walsh, Johnson, and Quill families, whose lives have been upended by alpha-1 anti-trypsin deficiency. Although their ordeal felt like an insurmountable challenge, they found each other and worked hard to make the journey easier for one another.
Watch them tell their stories of resilience, community, and the impact of family support in their journey.
Organization Taking Strides
The Alpha-1 Foundation was established in 1995 by John Walsh, Sandy Lindsey, and Susan Stanley, three people diagnosed with alpha-1 antitrypsin deficiency who made it their mission to improve the lives of people affected by their same condition, while at the same time advancing our understanding of the mechanisms and possible cures on the horizon. Although the founders have unfortunately passed away, the Foundation honors their legacy by continuing their work on several fronts.
The Foundation has invested over $100 million in alpha-1 antitrypsin deficiency research, supporting studies at over 116 institutions globally. This funding has been put to good use, including increasing the number of clinical trials tenfold in the last decade. The Foundation manages a comprehensive research registry to connect patients with researchers enhancing trials in a patient-centered way.
To support patients, the Foundation provides a range of support services, including patient information lines, genetic counseling, and educational scholarships. They also offer access to a network of Clinical Resource Centers across North America, which specialize in patient care, education, and research related to Alpha-1. They also raise awareness and educate both the general public and healthcare professionals about Alpha-1 through national conferences and education days.
Visit their website to learn more about their activities and how you can help.
