Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Effective treatments for mutated transthyretin (TTR)-related cardiac amyloidosis are limited. Heart transplantation or combined liver-heart transplantation are the most successful options, although results rely on underline mechanism and systemic nature of the disease. In this report, we present the first case of a Caucasian patient with the p. ⋯ Val122Ile mutated TTR-related cardiac amyloidosis have been reported. The patient and some members of his family also had mild peripheral neuropathy suggesting a regional phenotypic heterogeneity of European Caucasian TTR p. Val122Ile.
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Gastrointestinal symptoms are frequent in familial amyloid polyneuropathy, mainly resulting from autonomic nervous system involvement. Dysphagia is one of the possible symptoms, although rarely severe or sudden. We describe a case of a sudden onset and severe dysphagia, a rare form of presentation, in a patient whose polyneuropathy was still beeing investigated and turned out to be ATTRVal30Met-polyneuropathy.
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Transthyretin familial amyloid polyneuropathy is characterized by a devastating sensory-motor polyneuropathy associated with life-threatening autonomic disturbance. An early diagnosis is mandatory to increase the chance to modify the course of the disease. This paper underlines the diagnostic problems encountered in this condition.