From the Research
Refsum's disease is a rare genetic disorder characterized by the body's inability to break down phytanic acid, leading to its accumulation in tissues and organs, and the most recent and highest quality study suggests that early diagnosis and dietary intervention are crucial to prevent progression of neurological damage 1.
Definition and Cause
Refsum's disease is caused by mutations in the PHYH or PEX7 genes, resulting in deficient phytanoyl-CoA hydroxylase enzyme activity. This condition leads to the accumulation of phytanic acid in fatty tissues, including myelin sheaths and internal organs, causing a range of symptoms.
Symptoms
Patients with Refsum's disease typically present with symptoms including:
- Retinitis pigmentosa (night blindness and vision loss)
- Peripheral neuropathy
- Cerebellar ataxia
- Hearing loss
- Ichthyosis (scaly skin)
Treatment
The primary treatment involves a strict diet low in phytanic acid, which means avoiding foods like dairy products, ruminant animal fats, and certain fish. Plasmapheresis may be used in severe cases to rapidly reduce phytanic acid levels, as shown in a study where lipid apheresis was performed for 5-13 years without severe complications and resulted in long-term improvement or stabilization of overall rehabilitation in patients with progressive Refsum's disease 2.
Management and Quality of Life
Regular monitoring of blood phytanic acid levels is essential to assess treatment effectiveness. An interdisciplinary approach should be used for patients to address physical and psychosocial impairments of Refsum's disease, as depression symptoms were reported in 86.2% of the participants in a retrospective survey analysis 1. Early diagnosis and dietary intervention are crucial as they can prevent progression of neurological damage, though existing damage is often irreversible.
Inheritance Pattern
The disease follows an autosomal recessive inheritance pattern, meaning both parents must carry the defective gene for a child to develop the condition. Genetic counseling is recommended for affected families to understand inheritance risks for future children.