Refsum disease

The so-called Refsum disease, also known as Morbus Refsum, is a hereditary metabolic disorder which results in a large build-up of phytanic acid in the body. This results in phytanic acid depositions which are found frequently in the fatty tissue, the eyes, the heart, the liver and the kidneys and which are associated with a functional limitation of these organs.

Patients with Refsum disease are subject to a strict diet which is hardly compatible with the everyday life and leads to excessive weight loss. Since the phytanic acid mainly takes up by lipoproteins in the blood, there is the possibility to remove these particles from the blood plasma by filtration. 

DIAMED provides Rheopheresis® for the treatment of Refsum disease, a procedure in the area of therapeutic apheresis. When the disease progresses in spite of the special diet, a special variant of Rheopheresis can be an appropriate therapeutic option. 

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Rheopheresis in practice

Retinitis pigmentosa and Refsum disease? 

If you have been diagnosed with retinitis pigmentosa, a disease of the retina, you should ask your doctor about the possibility of Refsum disease, especially if you additionally recognize some of the following symptoms: 

  • Nerve injuries (polyneuropathies)
  • Unsteady when walking
  • Malfunction of the olfactory sense
  • Hearing impairment
  • Cardiac arrhythmias
  • Shortened metacarpus / metatarsal bones. 

Further information about Rheopheresis

In principle, we recommend that you consult the doctor who is treating you. 

For a better understanding of other technical terms, please also refer to our Glossary. 

logo_e-mail_orange_xs.png Do you have any questions about Rheopheresis? Then we would be happy to help you: diamed(at)diamed.de. Or feel free to use our contact form.

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