Impact of Disease

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

When energy balance is disrupted, chronic symptoms and acute episodes burden patients1-4

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 as1-3:

Chronic symptoms of fatigue, muscle pain, and weakness5

  • Arise or are exacerbated during catabolic situations, such as fasting, illness, and endurance exercise1,5,6
  • Are chronic and progressive manifestations resulting from prolonged energy deficiency and tissue/vital organs fatty acid accumulation1,3,6

Acute episodes that often involve rhabdomyolysis, cardiomyopathy, or hypoketotic hypoglycemia1,5

  • Are usually triggered by illness or fasting, but they may occur spontaneously and unpredictably in some LC-FAOD types, with long-lasting implications1,5,6
  • May lead to hospitalization, emergency room visits, emergency treatment interventions, and sudden death1,3,7

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

DOWNLOAD  |  SHARE

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.

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