Rare Disease Education: Long-chain 3-hydroxyacyl-CoA Dehydrogenase 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 of the Week: Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
When planning supplies for a long camping trip in nature, far away from civilization and sources of electricity, you would naturally plan to have a portable charger or external battery pack in case of need. While on the trip, something goes awry and you need to charge your device to keep it functioning, but you realize that, although you have the battery pack at your disposal, you forgot the cable and have no way of accessing it. A similar phenomenon is happening in the bodies of people with this week’s zebra, long-chain 3-hydroxyacyl-CoA dehydrogenase, or LCHAD, deficiency.
In LCHAD deficiency, the mitochondria in cells lack functioning enzymes that are needed to break down long-chain fatty acids. This prevents the body from creating energy from certain fats especially during times of stress, illness, fasting, and exercise. The lack of energy, along with the accumulation of the long-chain fatty acids leads to a host of symptoms that are usually apparent in early childhood. These symptoms include lack of energy, weak muscle tone (i.e., hypotonia), liver problems, and abnormalities in the retina that may cause blindness.
LCHAD deficiency is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene. It is typically included in newborn screening tests.
To learn more about the mechanisms and diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, watch the dedicated Osmosis video on YouTube and Osmosis.org
Meet Henry and Rosie
Henry’s mother Jess was happy raising her perfect little boy when, one night, everything changed. She did not know exactly what was wrong, but she was absolutely sure that Henry did not seem like the baby she had held just a few hours earlier. After Henry’s diagnosis with LCHAD deficiency, the family had to go through the same feelings of despair and discouragement when his younger sister Rosie was also diagnosed. Today, Henry and Rosie have taught their family the true meaning of resilience and they do not let their diagnosis stop them from living full, happy lives, all while looking for a cure. Watch them tell their story above.
Organization Taking Strides
In 2005, patients, parents, and healthcare leaders who had a vision of improving quality of life for children and adults with mitochondrial disease joined forces to create the MitoAction nonprofit organization. It has grown from a small support group to a dynamic, active service organization helping thousands of patients and families.
Their website is a one-stop shop for reliable information for the newly-diagnosed, especially with their “New Patient Kit” that serves as a map to guide patients and their families through the tough first steps. They also host patient education forums, monthly expert webinars, a podcast called Energy in Action, and more.
They host countless events from the scientific type such as their Annual International Metabolic Conference for Fatty Acid Oxidation Disorders to the social type such as an art show, passing through fundraising programs.
To support healthcare professionals, they have collaborated with other stakeholders to create the Mitochondrial Care Network to implement best practices and standards of care in mitochondrial medicine.
Visit the MitoAction website to learn more about their activities and how you can help.
