Familial Amyloidotic Polyneuropathy Type 1: A Hereditary

Familial amyloidotic polyneuropathy type 1 (FAP 1) is a systemic autosomal dominant amyloidosis, associated with transthyretin mutation. It is characterised by motor, autonomic and sensory neuropathy with relentless progression that results from amyloid deposition in different tissues. The authors describe the case of a patient with family history of a nephew, who underwent liver transplantation for unknown pathology, as well as the deaths of both his mother and a brother due to stroke. He reported complaints of dizziness, asthenia and sensory changes in the lower limbs and a history of arterial hypertension, dyslipidemia and chronic kidney disease. Physical examination revealed macroglossia and pain hyposensitivity in the anterior feet. In subsequent evaluation, the presence of proteinuria, changes in cardiac electrical conduction, sensory and motor neuropathy with sympathetic and parasympathetic dysfunction in electrophysiological study raised the suspicion of a systemic disease. The patient underwent kidney biopsy, which was positive for amyloid. FAP 1 diagnosis was later confirmed by genetic testing. Family history review confirmed that patient's liver transplanted nephew and other two nieces had FAP 1, which he was initially unaware of.

Automated summary

The case described in the article is about a patient with FAP 1, a systemic amyloidosis with transthyretin mutation. The patient had family history of the disease, with other family members affected. Symptoms included neuropathy, cardiac conduction changes, and kidney disease, with FAP 1 diagnosis confirmed through genetic testing.