Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis, and cardiac abnormalities. A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. In order to be able to apply dietary therapy, as many patients as possible (even better if all of them are) have to be identified at an early stage. The ophthalmologist plays a crucial role in achieving this goal because of the early manifestation of the tapetoretinal degeneration.
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Article Synopsis
- Refsum disease is a rare genetic disorder affecting lipid metabolism, leading to the buildup of phytanic acid and resulting in symptoms like ataxia, neuropathy, and hearing loss, with potential cardiac issues developing later in life.
- A case study presented a 38-year-old man who experienced acute heart failure due to dilated cardiomyopathy, confirmed by high levels of phytanic acid, illustrating that cardiac problems are common in advanced Refsum disease.
- Management options for Refsum disease include dietary restrictions on phytanic acid and lipid apheresis to alleviate symptoms and improve patients' quality of life.
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