Rare Disease Education: Pernicious Anemia

Authors: 
Osmosis and the National Organization for Rare Diseases (NORD)

Rare Disease Education:  Pernicious Anemia

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: Pernicious Anemia

Every new year, countless people take on the resolution of eating a healthier, more balanced diet. What if no matter how much effort you put into eating well, your body could not reap the benefit?

In Pernicious Anemia, the body produces auto-antibodies against a stomach protein called Intrinsic Factor. Intrinsic factor is crucial for the absorption of vitamin B12. This will result in a B12 deficiency that cannot be resolved efficiently through oral intake.

B12 deficiency will impair the production of red blood cells, causing anemia and its related symptoms such as fatigue and pale skin. Moreover, B12 deficiency can affect the nervous system to cause numbness and tingling of the extremities as well as mood changes. The nervous system effects may become permanent despite treatment in case of a prolonged delay. To find out more about this high yield topic, watch the this video.

Meet Carrie-Ann, new mother

Carrie-Ann had simultaneously lost her father and gone through the final stages of pregnancy to give birth. With so much going on around her, she did not think it was unusual to have symptoms piling up. Watch how her story unfolds to realize the importance of awareness and being informed.
 

More Information on Pernicious Anemia

Signs & Symptoms

Causes

Diagnosis

Publications

Pernicious Anemia Educational Video: