Refsum Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Refsum Disease?
A primary care doctor often coordinates care and handles the diet plan and routine checks. People with Refsum disease also see specialists, most often a neurologist, and sometimes an eye, hearing, or heart specialist. A metabolism specialist may guide the diet treatment.
What it is
Refsum disease is a rare inherited condition that affects how the body breaks down phytanic acid, a fat that comes from food. When this fat builds up in the blood and tissues, it can damage nerves, vision, hearing, and other parts of the body. It is lifelong, but treatment can lower fat levels and often slow or ease many symptoms.
Symptoms
Symptoms usually start in late childhood or the teen years, but can begin later. Many people notice trouble seeing at night from retinitis pigmentosa, slow damage to the light-sensing tissue at the back of the eye. Other signs include loss of smell, hearing loss, numbness or weakness in the hands and feet, unsteady walking, scaly skin, short toes or fingers, and heart rhythm problems.
Causes and who gets it
Refsum disease is caused by changes in a gene, most often the PHYH gene, inherited from both parents. Parents carrying only one changed gene usually have no symptoms. It is very rare and often runs in families.
How doctors diagnose it
Doctors check blood levels of phytanic acid, which are high in people with Refsum disease. Genetic testing can confirm the changed gene. Eye, hearing, nerve, and heart tests show which parts of the body are affected.
Treatment
The main treatment is a diet low in phytanic acid, limiting beef, lamb, dairy, and fatty fish. This lowers blood levels and can improve or slow many symptoms. Doctors may also add hearing aids, cataract surgery, or medicines for heart rhythm issues.
When to see a doctor
See a doctor if you have night blindness, loss of smell, hearing loss, or numbness and weakness in the hands and feet. Anyone with a family history should ask about testing even before symptoms appear, because early treatment can prevent serious damage.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either type can manage routine care for Refsum disease, with longer appointments that help with diet planning and follow-up. They can order blood tests, monitor the heart, and refer to the right specialist when needed.
Common questions
Is Refsum disease curable?
There is no cure because the disease is caused by a changed gene, but the diet treatment can lower the fat that causes damage, and many symptoms often improve once levels drop.
What foods should someone with Refsum disease avoid?
Foods high in phytanic acid include beef, lamb, dairy products, and fatty fish. A doctor or dietitian can help build a plan that limits these foods while keeping the diet balanced.
Can Refsum disease be found before symptoms start?
Yes. A blood test can show high phytanic acid levels, and genetic testing can find the changed gene. Family members are often offered testing so treatment can begin early.
Does everyone with Refsum disease go blind?
No. Many people have night vision problems, and the eye damage can worsen over time, but early treatment may slow it.
Sources
- NIH Genetic and Rare Diseases Information Center - Phytanic acid storage disease
- MedlinePlus Genetics - Refsum disease
- National Organization for Rare Disorders (NORD) - Refsum Disease
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
