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Refsum Disease: Treatment & Medication
Updated: Jul 10, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
Treatment
Medical Care
Three forms of medical care are used for Refsum disease (RD).
- Diet (see Diet)
- Plasmapheresis
- The main indication for plasmapheresis in patients with Refsum disease is a severe or rapidly worsening clinical condition.17
- A minor indication is failure of dietary management to reduce a high plasma phytanic acid level.
- Cascade filtration may be an alternative for plasmapheresis. It is as efficient as plasmapheresis and eliminates the need for albumin replacement.18
- Local dermatologic drugs to soften the skin (see Medication)
Pharmacological upregulation of the omega-oxidation of phytanic acid may form the basis of the new treatment strategy for adult Refsum disease in the near future.19
A clinical trial that may be of interest is Study of Bile Acids in Patients With Peroxisomal Disorders.
Surgical Care
Bilateral cochlear implantation should be considered for patients with severe dual sensory loss.20
Consultations
Because of the variety of different symptoms, these patients require consultation from different specialists.
- Neurologist to estimate neurologic defects
- Ophthalmologist to exclude ophthalmic impairments
- Generalist (internal medicine specialist) to exclude abnormalities in the internal organs (especially cardiac ones)
- Dermatologist to assess skin changes
Diet
Diet is 1 of 3 types of regimens used to treat patients with Refsum disease.- Eliminate all sources of chlorophyll from the diet.
- The major dietary exclusions are green vegetables (source of phytanic acid) and animal fat (phytol).
- The aim of such dietary treatment is to reduce daily intake of phytanic acid from the usual level of 50 mg/d to less than 5 mg/d.
- This change is accompanied by increased nerve conduction velocities, return of reflexes, and improvement in sensation and objective coordination.
- Ichthyosis clears, and its recurrence may be a marker of rising phytanic acid level in blood.
- Improvement in clinical status as a result of diet is due to the presence of alternative pathway oxidation omega-oxidation that is able to metabolize small amounts of phytanic acid.
- Lifelong strict adherence to the diet is mandatory. A high carbohydrate intake should be provided to avoid a rapid weight loss as it metabolizes tissue phytanic acid.
Medication
Appropriate medications consist of skin care products (eg, keratolytics, emollients). Recent research has shown that enzymes responsible for the omega-hydroxylation of phytanic acid could be useful in Refsum disease treatment. Elevation of CYP4 enzymes could have a favorable role in the elimination of phytanic acid in persons with Refsum disease.Keratolytics
Used to soften and exfoliate the skin.
Urea (Carmol, Ureacin-40, Aquacare)
Indicated for hyperkeratosis. Promotes hydration and removal of excess keratin in conditions of hyperkeratosis. Available in 10-40% concentrations.
Adult
Apply to affected area prn
Pediatric
Administer as in adults
May decrease effects of lithium
Documented hypersensitivity; severely impaired renal function; active intracranial bleeding; marked dehydration; frank liver failure; infusion into veins of lower extremities in elderly patients may cause phlebitis and thrombosis
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Do not use near eyes; caution if applied to broken or swollen skin
Ammonium lactate (Lac Hydrin)
Contains lactic acid, an alpha hydroxy acid that has keratolytic action, thus facilitating release of comedones. Comes in 12% and 5% strength. The 12% strength may cause irritation on the face. Causes disadhesion of corneocytes.
Adult
Apply to affected areas prn
Pediatric
Administer as in adults
None reported
Documented hypersensitivity
Pregnancy
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Precautions
Avoid use near eyes, mucosal surfaces, and irritated skin or open lesions; may sting or cause pain if applied on broken skin; may cause irritation with erythema, burning, and peeling if applied to face in 12% concentrations
Mineral oil (Kondremul, Zymenol)
Provides relief of minor skin irritations, and promotes the removal of excess keratin in conditions of hyperkeratosis. Found in a variety of topical lotions.
Adult
Apply to affected area prn
Pediatric
Administer as in adults
None reported
Documented hypersensitivity
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Observe for hypersensitivity reactions
More on Refsum Disease |
| Overview: Refsum Disease |
| Differential Diagnoses & Workup: Refsum Disease |
Treatment & Medication: Refsum Disease |
| Follow-up: Refsum Disease |
| References |
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References
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Jansen GA, Ofman R, Ferdinandusse S, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. Oct 1997;17(2):190-3. [Medline].
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Further Reading
Keywords
Refsum disease, heredopathia atactica polyneuritiformis, RD, neurocutaneous syndromes, peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, ichthyosis
Treatment & Medication: Refsum Disease