Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Introduction: HHV8-negative Castleman disease (CD) is classified as hyaline vascular (HV) type, or mixed or plasma cell (PC) types. It may present as multicentric CD (MCD) or unicentric CD (UCD). CD is a rare cause of AA amyloidosis (AAA). ⋯ Clinical and biologic remission was achieved in six patients with MCD (43%), all of whom were treated with anti-interleukin-6 (IL-6) therapy. Conclusions: AAA is a rare complication of CD, namely idiopathic MCD and UCD presenting with the PC histologic subtype. Surgical excision of UCD should be the first-line treatment whenever possible, while anti-IL-6 therapies seem effective for MCD.
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Background: Tafamidis is approved in over 40 countries to delay neurologic progression in patients with transthyretin amyloid polyneuropathy (ATTR-PN). A comprehensive, integrated analysis of safety data from interventional, observational and surveillance studies of tafamidis in ATTR-PN patients was conducted. Methods: Safety data from all sponsored, completed, or ongoing, Phase 2/3 studies of tafamidis in ATTR-PN patients as of 3 January 2017 were pooled. ⋯ Post-marketing surveillance reports generally reflected the known safety profile of tafamidis. Conclusions: This analysis did not reveal any significant new safety findings; tafamidis was generally safe and well tolerated in ATTR-PN patients. ClinicalTrials.gov: NCT00409175, NCT00791492, NCT00630864, NCT01435655, NCT00925002, and NCT00628745.
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Background: Localized nodular deposits of AL amyloid are seen in different tissues/organs; however, the pathogenesis of this form of amyloidosis remains unclear. Recently, Sjögren syndrome combined with localized nodular AL amyloidosis has been noted. Here, we report Sjögren syndrome cases showing multifocal nodular AL amyloidosis and the followed benign course. ⋯ In two cases amyloid deposition was found on gastric mucosa. Two cases received small doses of oral prednisone, with no further appearance of amyloidoma. Conclusion: Sjögren syndrome-related plasma cell disorder may be responsible for the formation of this unique multifocal nodular AL amyloidosis.
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Observational Study
Association between hearing loss and hereditary ATTR amyloidosis.
Background: Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern. Methods: Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry. ⋯ According to the type of mutation, there was an increased rate of sensorineural or mixed/conductive hearing loss. Conclusions: the present study indicates that hearing loss is more prevalent and worse in patients with ATTRv amyloidosis than in the general population, while mostly clinically under-estimated. It suggests that ATTRv deposits could infiltrate the various anatomical structures of the inner and mild ear.
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Observational Study
Pharyngo-laryngeal involvement in systemic amyloidosis with cardiac involvement: a prospective observational study.
Background: Systemic amyloidosis with cardiac involvement (CA) is a severe disease caused by the aggregation of misfolded proteins infiltrating organs and tissues and leading to their dysfunction. No study has yet focused on potential pharyngo-laryngeal impairments associated to CA. Our objective was to define its prevalence and describe pharyngo-laryngeal involvement patterns in a population with CA (light chain: AL, wild-type transthyretin: ATTRwt, variant transthyretin: ATTRv). ⋯ VESS showed functional swallowing impairment in only 4 patients without any macroscopic organic lesion. Dysphonia was reported in 36% of the patients (44% and 47% in AL and ATTRv sub-groups, respectively) of whom 40% had functional or organic laryngeal abnormality (14% of vocal fold mobility dysfunction and 26% of abnormal mucosa) without any macroscopic-specific lesions of amyloid infiltration in these patients. Conclusions: This prospective study suggests, for the first time, that amyloid associated with CA could infiltrate the various anatomical structures of the pharyngo-larynx, responsible for functional impairment and potential nutritional depletion and poor quality of life.