| Theme | Management of Systemic Diseases with Blood Purification : Aute and Chronic Stage of Diseases | |
|---|---|---|
| Title | Plasma exchange treatment for familial amyloidotic polyneuropathy (FAP) with TTR Met 30 | |
| Publish Date | 2001/03 | |
| Author | Toshiomi Goto | Mitsui Ohmuta Hospital, Department of Neurology, Neurological Center |
| Author | Shinichi Ikegawa | Ikegawa Clinic |
| Author | Shukuro Araki | Mitsui Ohmuta Hospital, Department of Neurology, Neurological Center |
| [ Summary ] | Type I FAP is an autosomal dominant systemic amyloidosis, characterized by peripheral neuropathy and autonomic dysfunction. It occurs most often as a result of mutation within the transthyretin (TTR) gene. Type I FAP with TTR Met 30 is clinically characterized by middle age onset of sensory dominant polyneuropathy. The disease follows a progressive course and death follows in approximately 10-20 years from renal, cardiac amyloidosis or malnutrition, related to gastrointestinal amyloidosis. There is no specific treatment for any form of systemic amyloidosis. Recently, liver trans plantation has been carried out for FAP patients with beneficial effects seen. Plasma exchange was performed to remove protein, which is a possible precursor to amyloid fibril, a variant TTR from serum. No appreciable clinical improvement was obtained in the three patients seen. This may simply be due to having only one trial for each patient. Variant TTR once removed, returned to prior levels within 3 days, suggesting that if a plasma exchange procedure is performed, it must be done frequently. To selectively remove the variant TTR from serum, an absorbent with a specific affinity for variant TTR is needed. Plasma exchange treatment requires further investigation. |
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