Highlights
- •HoFH therapy is highly variable.
- •Patient QoL is negatively affected by HoFH and its treatment.
- •Prompt diagnosis and treatment are important for patient well-being.
Background
Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited
disease leading to early-onset atherosclerosis and associated morbidity. Because of
its rarity, longitudinal data on the management of HoFH in the real world are lacking,
particularly on the impact the condition has on quality of life (QoL), including the
impact of the extracorporeal lipid removal procedure apheresis (LA).
Methods
The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA
in 19 centers in Turkey. Demographic and disease characteristics data were obtained.
For patients aged ≥18 years, additional data on psychosocial status were obtained
via the SF-36 score, the Hospital Anxiety and Depression Scale, and a HoFH-specific
questionnaire.
Results
There was no standardized approach to therapy between centers. Mean (±SD) frequency
of LA sessions was every 19.9 (±14) days, with only 11.6% receiving LA weekly, and
85% of patients were not willing to increase LA frequency. The most common concerns
of patients were disease prognosis (31%), and physical, aesthetic, and psychological
problems (27.5%, 15.9%, and 11.6%, respectively). Lower age at diagnosis was associated
with better QoL, lower anxiety, improved functioning, and greater emotional well-being
compared to later diagnosis.
Conclusions
These findings demonstrate that adult patients with HoFH undergoing LA, experience
significant impairment of QoL with an increased risk of depression. From patients’
point of view, LA is time-consuming, uncomfortable, and difficult to cope with. The
speed of diagnosis and referral has a considerable impact on patient well-being.
Keywords
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Article info
Publication history
Published online: February 21, 2019
Accepted:
February 1,
2019
Received:
November 21,
2018
Identification
Copyright
© 2019 National Lipid Association. All rights reserved.
