Table 6. [Treatment of Manifestations in Individuals with Adult Refsum Disease]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
↑ phytanic acid level	Acute care: plasmapheresis or lipid apheresis	Can be used if acute arrhythmias or extreme weakness because phytanic acid is transported on lipoproteins Plasma phytanic acid concentrations can be ↓ by 50%-70%, typically to ~100-300 µmol/L.
Postoperative care requires parenteral nutrition w/solutions that do not contain phytanic acid, e.g., Intralipid^® available in 10%, 20%, & 30% concentrations & all based on soybean oil & egg yolk phospholipid.
Chronic care: dietary restriction of phytanic acid intake A low-phytanic acid diet can be given orally or by nasogastric tube. If oral intake is restricted, appropriate parenteral nutrition & fluid therapies are needed to maintain plasma glucose concentrations & prevent ketosis. A high-calorie diet is necessary to avoid mobilization of stored lipids (incl phytanic acid) into the plasma.	Plasma phytanic acid concentrations can be ↓ by 50%-70%, typically to ~100-300 µmol/L. ↓ in plasma phytanic acid concentration successfully resolves symptoms of ichthyosis, sensory neuropathy, & ataxia (in approx that order). Despite strict dietary treatment, RP appears to be very slowly progressive [BP Leroy, unpublished observations]. It is unknown if treatment affects progression of anosmia & deafness.
RP (rod-cone dystrophy)	Strict diet may slow evolution. Low vision aids are useful where & when required.	Visual rehab by specialist center preferable
Cataracts	Iris hooks may be required during cataract surgery to allow sufficient pupillary enlargement (pupils do not dilate well if at all in ARD). An anterior chamber lens w/iris fixation may be needed because the brittleness of the zonular fibers holding the lens capsule may prevent positioning of an intraocular lens in the capsular bag after cataract removal. However, capsular tension rings may provide further stability to zonular fibers & capsule during cataract surgery.
Ichthyosis	Hydrating creams
Cardio- myopathy	Regular care by cardiologist for cardiac arrhythmias & cardiomyopathy in order to treat signs & symptoms properly w/antiarrhythmic & cardiogenic supportive drugs Once cardiomyopathy has become difficult to treat, cardiac transplantation can be life saving. 2 persons w/ARD have had successful heart transplant [BP Leroy 2007 & 2015, personal observations].	During & after heart transplantation surgery: hypercaloric parenteral infusions &/or diet is paramount.

Manifestation/
Concern

Treatment

Considerations/Other

↑ phytanic
acid level

Acute care: plasmapheresis or lipid apheresis

Can be used if acute arrhythmias or extreme weakness because phytanic acid is transported on lipoproteins
Plasma phytanic acid concentrations can be ↓ by 50%-70%, typically to ~100-300 µmol/L.

Postoperative care requires parenteral nutrition w/solutions that do not contain phytanic acid, e.g., Intralipid^® available in 10%, 20%, & 30% concentrations & all based on soybean oil & egg yolk phospholipid.

Chronic care: dietary restriction of phytanic acid intake

A low-phytanic acid diet can be given orally or by nasogastric tube.
If oral intake is restricted, appropriate parenteral nutrition & fluid therapies are needed to maintain plasma glucose concentrations & prevent ketosis.
A high-calorie diet is necessary to avoid mobilization of stored lipids (incl phytanic acid) into the plasma.

Plasma phytanic acid concentrations can be ↓ by 50%-70%, typically to ~100-300 µmol/L.
↓ in plasma phytanic acid concentration successfully resolves symptoms of ichthyosis, sensory neuropathy, & ataxia (in approx that order).
Despite strict dietary treatment, RP appears to be very slowly progressive [BP Leroy, unpublished observations].
It is unknown if treatment affects progression of anosmia & deafness.

RP
(rod-cone
dystrophy)

Strict diet may slow evolution.
Low vision aids are useful where & when required.

Visual rehab by specialist center preferable

Cataracts

Iris hooks may be required during cataract surgery to allow sufficient pupillary enlargement (pupils do not dilate well if at all in ARD).
An anterior chamber lens w/iris fixation may be needed because the brittleness of the zonular fibers holding the lens capsule may prevent positioning of an intraocular lens in the capsular bag after cataract removal.
However, capsular tension rings may provide further stability to zonular fibers & capsule during cataract surgery.

Ichthyosis

Hydrating creams

Cardio-
myopathy

Regular care by cardiologist for cardiac arrhythmias & cardiomyopathy in order to treat signs & symptoms properly w/antiarrhythmic & cardiogenic supportive drugs
Once cardiomyopathy has become difficult to treat, cardiac transplantation can be life saving. 2 persons w/ARD have had successful heart transplant [BP Leroy 2007 & 2015, personal observations].

During & after heart transplantation surgery: hypercaloric parenteral infusions &/or diet is paramount.

From: Adult Refsum Disease

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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