Neurology: Health-related quality of life in adults with classic subcurtain superficial ferrisosis: a cross-sectional study

Classic (subcurtainal) superficial ferrisis (iSS) of the central nervous system (CNS) is a rare but disabling neurological disorder that is almost always associated with
hearing loss, imbalance (ataxia), and myelopathy.
Other features of ISS include cognitive dysfunction, bladder and bowel dysfunction, and chronic pain
.

ISS is characterized by chronic hypovolemic hemorrhage into the cerebral crest fluid – in most cases due to dural defects due to trauma or surgery of the central nervous system, resulting in the breakdown of hemoglobin and the production of toxic iron, ferritin with the formation of hemosiderin deposits on the surface of central nervous system structures, including cerebellum, brainstem, skull-neck junction and spinal cord 2 (Figure 1).

Although the clinical course is highly variable, there is usually progressive decline in function, accompanied by worsening
of hearing, balance, mobility, and other symptoms.
The main goal of treatment is to identify and repair the source of bleeding, stop the effects of
neurotoxic iron with iron chelators (e.
g.
, deferiprone one), or both.

Subcurial superficial ferrisis (iSS) is a rare but disabling neurological disorder characterized by progressive hearing loss, balance and mobility problems
.
As iSS progresses, decreased function in these neural areas may adversely affect
health-related quality of life (HRQoL).
A study published in Neurology studied HRQoL in adults with iSS using two common universal HRQoL measures, the Health Utility Index Mark III (HUI3) and EuroQoL EQ5D (grade 5), to identify the areas most affected and assess the association
between HRQoL scores and duration of disease.

This observational study is an anonymous online survey
.
Following approval by the Institutional Research Ethics Committee, we contacted specialized international organizations, charities and patient groups identified through online searches, social media and collaborative networks to distribute research information and research links, inviting members diagnosed with iSS to participate
.
Participation requires access to a digital device connected to the internet, confirmation of eligibility (age≥ 18 years old, previously diagnosed with iSS) and informed consent to participate in surveys that include research specific questions (demographics, iSS, listening) and HRQoL questionnaires
.
The survey results were acquired by the Research Electronic Data Acquisition (REDCap) survey software and analyzed
using the SPSS statistical software package.
The researchers performed linear regression analysis to investigate the relationship between
quality of life scores and duration of disease.

The findings suggest that a low HRQoL score captures a low-functioning state in several domains typically affected by iSS, suggesting that iSS has a significant adverse effect
on quality of life in multiple functional domains.
HRQoL measurements in the ISS should be included in clinical and research settings, including therapeutic trials
.

Sources: Kharytaniuk N, Mazaheri AA, Pavlou M, Werring D, Bamiou DE.
Health-Related Quality of Life in Adults With Classical Infratentorial Superficial Siderosis: A Cross-sectional Study [published online ahead of print, 2022 Aug 25].
Neurology.
2022; 10.
1212/WNL.
0000000000201115.
doi:10.
1212/WNL.
0000000000201115