Impact of long-chain fatty oxidation disorders on patients and caregivers

Patients with LC-FAOD face difficult challenges and substantial medical burdens

When energy balance is disrupted, chronic symptoms and acute episodes burden patients^1-4

UNMET NEEDS IN LC-FAOD: CHRONIC SYMPTOMS AND ACUTE EPISODES

LC-FAOD present across a broad spectrum and there remains an unmet clinical need. Many patients still experience lifestyle limitations, as well as significant morbidities and life-threatening complications, such as^1-3:

Chronic symptoms of fatigue, muscle pain, and weakness⁵

Arise or are exacerbated during catabolic situations, such as fasting, illness, and endurance exercise^1,5,6
Are chronic and progressive manifestations resulting from prolonged energy deficiency and tissue/vital organs fatty acid accumulation^1,3,6

Acute episodes that often involve rhabdomyolysis, cardiomyopathy, or hypoketotic hypoglycemia^1,5

Are usually triggered by illness or fasting, but they may occur spontaneously and unpredictably in some LC-FAOD types, with long-lasting implications^1,5,6
May lead to hospitalization, emergency room visits, emergency treatment interventions, and sudden death^1,3,7

Despite early detection and management, LC-FAOD mortality rates tend to remain high.³

DIMINISHED HEALTH-RELATED QUALITY OF LIFE

Patients with LC-FAOD experience substantially diminished health-related quality of life, with negative impacts on physical, mental/emotional, and social functioning.^3,8

Constant supervision

Patient care may require a round-the-clock commitment, including supervision of diet and nutrition, monitoring of energy levels, and watching for signs and symptoms of decompensation and/or fatigue.^7,9,10

Emotional well-being

Uncertainty and fear surrounding the condition and long-term impact of disease can have a detrimental effect on emotional well-being.⁴

Anxiety and depression

In a study intended to determine health-related quality of life among patients with LC-FAOD and their caregivers, preliminary results showed increased anxiety among parent caregivers.⁴

Avoidance of triggers

Continual avoidance of triggers such as exercise, viral illnesses, and cold or hot weather, and the risk of recurrence may lead to anxiety and depression.⁴

A resource to share with your patients or their caregivers

Living Well While Caring For Someone With LC-FAOD

Information on how to prepare caregivers of a child with LC-FAOD and access the help and support they need

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THE UNDERLYING SCIENCE DETERMINES THE DISORDER

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare, life-threatening autosomal recessive disorders.^5,6,11,12

References

1. Saudubray JM, Martin D, de Lonlay P, et al. J Inherit Metab Dis. 1999;22(4):488-502. 2. Shekhawat PS, Matern D, Strauss AW. Pediatr Res. 2005;57(5 Pt 2):78R-86R. 3. Vockley J, Burton B, Berry GT, et al. Mol Genet Metab. 2017;120(4):370-377. 4. Siddiq S, Wilson BJ, Graham ID, et al. Orphanet J Rare Dis. 2016;11(1):168. 5. Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Rev Endocr Metab Disord. 2018;19(1):93-106. 6. Wajner M, Amaral AU. Biosci Rep. 2015;36(1):e00281. 7. Vockley J, Burton B, Berry GT, et al. J Inherit Metab Dis. 2019;42(1):169-177. 8. Yamada K, Shiraishi H, Oki E, et al. Mol Genet Metab Rep. 2018;15:55-63. 9. Evans S, Shelton F, Holden C, Daly A, Hopkins V, MacDonald A. Arch Dis Child. 2010;95(9):668-672. 10. Merritt JL 2nd, Norris M, Kanungo S. Ann Transl Med. 2018;6(24):473. 11. Lindner M, Hoffmann GF, Matern D. J Inherit Metab Dis. 2010;33(5):521-526. 12. Wanders RJ, Ruiter JP, IJLst L, Waterham HR, Houten SM. J Inherit Metab Dis. 2010;33(5):479-494.

Impact of Disease