OBJECTIVE To evaluate the long-term impact of liver transplantation on ocular manifestations of familial amyloid polyneuropathy (FAP) in Japanese patients. METHODS Medical records were retrospectively reviewed in a long-term follow-up study. Of 52 patients with FAP amyloidogenic transthyretin Val30Met, 22 patients underwent liver transplantation. We assessed ocular manifestations, including a...

We hereby report a 79-year-old Iranian man presenting with nail dystrophy and subsequent development of purpuric and ecchymotic plaques, hemorrhagic bullae, and infiltrated papules on the head, neck and trunk. Histological examination of the gingiva, bone marrow aspiration, and biopsy confirmed the diagnosis of primary systemic amyloidosis. In this case, nail dystrophy was the presenting sign o...

despite the fact that hepatic involvement is frequently seen in systemic primary amyloidosis, major hepatic symptoms as primary manifestation and severe impaired liver function are rare. herein, we report a 38-year-old woman with primary hepatic amyloidosis, and severe  portal hypertension . the patient had ascites and markedly elevated alkaline phosphatase level at presentation. she had a rapi...

Amyloidosis of urinary bladder is a rare condition and may be primary or secondary in nature. A case of primary localized vesical amyloidosis (VA) in a 40-yr-old man is described confused with neoplasm by cystoscopic, urographic. Surgical specimens obtained by transurethral resection (TUR) were diagnostic and histologically revealed amyloid deposits in sub-epithelial stroma with chronic inflamm...

Localized nasal, conjunctival and corneal amyloidosis was diagnosed in a 15-year-old pony with nasal and conjunctival masses and severe dyspnoea. Multiple swellings had been evident in the nostrils for at least two years and had gradually increased in size before presentation due to dyspnoea and exercise intolerance. Surgical debulking of the masses was performed and histological examination re...

Amyloidosis is a disease characterized by the formation of extracellular amyloid deposits. Immunoglobulin light-chain amyloidosis can appear as a local disorder presenting with mild symptoms or as a life threatening systemic disease. The systemic form of immunoglobulin light-chain amyloidosis is the most common type of amyloidosis in western countries although it is a rare disease. Identificati...

Introduction CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation. Mutations in the NLRP3 gene on chromosome 1q44 causes cryopyrinopathies. These are autosomal dominant disorders with varying penetrance, which may also present de novo. MWS is an ...

PURPOSE This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations. METHODS The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, usi...

The clinically reported case of liver involvement with multiple myeloma (MM) is rare. Amyloidosis, defined as a tissue deposition of clonal light-chain fibrils, has been reported in 10-15% of the MM patients. We described a rare MM patient with the primal presentation of fulminant hepatic failure and biliary system involvement due to amyloidosis. Our patient had the primal symptoms of hyperbili...