From the Research
Refsum disease is a rare genetic disorder characterized by the accumulation of phytanic acid in the body due to a deficiency in the enzyme phytanoyl-CoA hydroxylase, and the most recent and highest quality study suggests that dietary restriction of phytanic acid and lipid apheresis can improve or stabilize symptoms and quality of life 1.
Definition and Pathophysiology
Refsum disease is a rare autosomal recessive disorder of fatty acid metabolism, where poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths and internal organs, leading to various symptoms such as retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, and renal, cardiac or liver impairment 2.
Clinical Manifestations
The disease causes progressive symptoms including night blindness, peripheral neuropathy, cerebellar ataxia, hearing loss, and cardiac abnormalities, which result from the toxic effects of phytanic acid on various tissues, particularly the nervous system 1.
Diagnosis and Treatment
Diagnosis relies on serum phytanic acid measurement, and treatment consists of a phytanic-acid free diet, sometimes associated with plasmapheresis or lipid apheresis to control symptoms and enhance quality of life 2, 3.
Management and Prognosis
Long-term management includes regular monitoring of phytanic acid levels, neurological assessments, and ophthalmologic examinations, and genetic counseling is recommended for affected individuals and their families 1, 4.
- Key points to consider in the management of Refsum disease:
- Dietary restriction of phytanic acid to reduce phytanic acid levels
- Lipid apheresis or plasmapheresis in severe cases to rapidly lower phytanic acid levels
- Regular monitoring of phytanic acid levels and neurological assessments
- Genetic counseling for affected individuals and their families
- Early diagnosis and dietary intervention can help prevent progression of symptoms and improve quality of life 1, 3