Refsum’s disease – a rare metabolic disorder with many faces

Refsum’s disease – a rare metabolic disorder with many faces

Refsum’s disease is a rare, inherited metabolic disorder that is based on a defect in the breakdown of phytanic acid. This fatty acid is mainly absorbed through animal foods. Due to the enzyme deficiency, it cannot be processed properly in the body, which leads to an accumulation and ultimately to harmful effects in various organs.

Cause: Lack of phytanic acid degradation

The disease is caused by a mutation in a gene responsible for the enzyme phytanoyl-CoA hydroxylase. This enzyme is necessary to break down phytanic acid in the so-called peroxisomes – the “recycling stations” of our cells. If this breakdown does not take place, phytanic acid accumulates in the tissue and causes harmful changes.

Symptoms: complex and often unspecific

• Refsum disease affects many systems in the body. Typical symptoms are
• Night blindness and progressive loss of vision (retinitis pigmentosa)
• Numbness and muscle weakness
• Unsteady gait and coordination problems
• Scaly skin (ichthyosis)
• Loss of smell
• In some cases: Cardiac arrhythmia or skeletal changes

These symptoms usually develop gradually and are therefore often only correctly diagnosed at a late stage.

Treatment: diet, therapy and holistic care

The basis of the therapy is a consistent diet that contains as little phytanic acid as possible. This means largely avoiding beef and lamb, dairy products and certain types of fish. Some vegetables that contain chlorophyll can also be problematic, as phytanic acid can be formed from them in the body.

In addition to diet, physiotherapeutic measures, regular check-ups (especially heart and eyes) and psychosocial support are central components of therapy.

Toxopheresis: quick help for acute symptoms

Toxopheresis can be used if phytanic acid levels are severely elevated or there is an acute deterioration. This is a special blood purification procedure in which toxic substances – in particular phytanic acid – are specifically removed from the blood plasma. This measure can quickly alleviate neurological symptoms and is used in addition to diet, especially in critical situations.

Conclusion: early diagnosis is crucial

Although Refsum’s disease is rare, it is treatable. Early diagnosis and an individual, interdisciplinary treatment plan can significantly slow down the progression of the disease and improve the quality of life of those affected in the long term.