Minor salivary gland biopsy for the diagnosis of familial amyloid polyneuropathy

Eduardo, Fernanda de Paula; Bezinelli, Letícia de Mello; Carvalho, Danielle Lima Corrêa de; Della-Guardia, B.; Almeida, Márcio Dias de; Marins, Lidiane V.; Corrêa, Luciana

doi:10.1007/s10072-016-2760-1

Cited by 16 publications

(7 citation statements)

References 21 publications

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“…We occasionally perform gastroduodenal or rectal biopsies for diagnostic purposes at our centre. Labial salivary glands is the preferred biopsy site at many centres and has a reported sensitivity of 75% to 91%, the latter achieved in a Portuguese population of generally early onset ATTRV30M patients [ 40 , 41 ]. We have no experience of this procedure but it is an acceptable diagnostic option, although it appears to be more uncomfortable for the patients than abdominal fat pad biopsies.…”

Section: Discussionmentioning

confidence: 99%

Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

Rokke

Gousheh

Westermark

et al. 2020

Orphanet J Rare Dis

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Background The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has not yet been evaluated. The aim was to evaluate the diagnostic accuracy of skin punch biopsies from abdominal fat in patients with suspected ATTR amyloidosis. Material and methods Data were evaluated from patients who had undergone abdominal fat pad biopsies using a skin punch due to suspected amyloidosis from 2006 to 2015. The biopsies had been analysed using Congo red staining to determine the presence of amyloid, and immunohistochemistry or Western blot to determine the type of amyloidosis. The final diagnosis was based on the clinical picture, biopsy results and DNA sequencing. Minimum follow-up after the initial biopsy was 3 years. Results Two hundred seventy-four patients (61% males) were identified, and in 132 (48%), a final diagnosis of amyloidosis had been settled. The majority (93%) had been diagnosed with hereditary transthyretin (ATTRv) amyloidosis, and therefore subsequent analyses were focused on these patients. Overall, our data showed a test specificity of 99% and a sensitivity of 91%. Ninety-eight (94%) of the patients had neuropathic symptoms at diagnosis, whereas 57 (55%) had signs of amyloid cardiomyopathy. Subgroup analyses showed that patients with merely neuropathic symptoms displayed the highest test sensitivity of 91%, whereas patients with pure cardiomyopathy displayed the lowest sensitivity of 83%. However, no significant differences in sensitivity were found between patients with or without cardiomyopathy or between the sexes. Conclusions Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspect ATTRv amyloidosis, including patients presenting with cardiomyopathy. In addition, the method enables typing not only of the precursor protein but also of the amyloid fibril type, which is related to the phenotype and to the outcome of the disease.

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Section: Discussionmentioning

confidence: 99%

Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

Rokke

Gousheh

Westermark

et al. 2020

Orphanet J Rare Dis

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“…The sensitivity of labial salivary gland biopsy in Val30Met ATTRv-PN patients is high, and varies between 75 and 91%. 72 73 Skin biopsy sensitivity varies between 70 and 80% 61 . Fat pad aspirate sensitivity for ATTRv is ∼ 45%.…”

Section: Diagnosismentioning

confidence: 99%

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

et al. 2023

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Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis with peripheral neuropathy is a disabling, progressive and life-threatening genetic condition that leads to death in ∼ 10 years if untreated. The prospects for ATTRv-PN have changed in the last decades, as it has become a treatable neuropathy. In addition to liver transplantation, initiated in 1990, there are now at least 3 drugs approved in many countries, including Brazil, and many more are being developed. The first Brazilian consensus on ATTRv-PN was held in the city of Fortaleza, Brazil, in June 2017. Given the new advances in the area over the last 5 years, the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology organized a second edition of the consensus. Each panelist was responsible for reviewing the literature and updating a section of the previous paper. Thereafter, the 18 panelists got together virtually after careful review of the draft, discussed each section of the text, and reached a consensus for the final version of the manuscript.

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“…Interestingly, patients with p.Val50Met (Val30Met) mutation from Portugal, Brazil, and the southern part of Japan usually present with early‐onset (<50 years) profound autonomic neuropathy and small fiber sensory loss in the second or third decade of life, 120,121,27 whereas patients with same mutation from other regions present with late‐onset (>50 years) pan‐modality sensory loss and mild or no autonomic disturbance 15,122,123 . In ATTRv amyloidosis, the sensitivity of biopsy may vary with genotype and phenotype, but in general, fat aspirate is positive in approximately 45%, 110 lip biopsy in 75%‐91%, 124,125 and skin biopsy in 70% 126 . The average life expectancy for patients with untreated ATTRv polyneuropathy is 10 years 10 …”

Section: Brief Overview Of Most Common Systemic Amyloidosis Affecting the Neuromuscular Systemmentioning

confidence: 99%

Neuromuscular amyloidosis: Unmasking the master of disguise

2021

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Amyloidosis refers to an etiologically heterogeneous group of protein misfolding diseases, pathologically characterized by extracellular amyloid fibrils producing congophillic amorphous deposits in organs and tissues, which may lead to severe organ dysfunction and mortality. Clinical presentations vary and are often nonspecific, depending on what organs or tissues are affected. In systemic amyloidosis, the peripheral nervous system is commonly affected, whereas the skeletal muscles are only rarely involved. Immunoglobulin light chain (AL) amyloidosis and hereditary transthyretin (ATTRv) amyloidosis are the most frequent types of systemic amyloidosis involving the neuromuscular system. Localized amyloidosis can occur in skeletal muscle, so-called isolated amyloid myopathy. Amyloid neuropathy typically involves small myelinated and unmyelinated sensory and autonomic nerve fibers early in the course of the disease, followed by large myelinated fiber sensory and motor deficits. The relentlessly progressive nature with motor, painful sensory and severe autonomic dysfunction, profound weight loss, and systemic features are distinct characteristics of amyloid neuropathy. Amyloid myopathy presentation differs between systemic amyloidosis and isolated amyloid myopathy. Long-standing symptoms, distal predominant myopathy, markedly elevated creatine kinase level, and lack of peripheral neuropathy or systemic features are highly suggestive of isolated amyloid myopathy. In ATTR and AL amyloidosis, early treatment correlates with favorable outcomes. Therefore, awareness of these disorders and active screening for amyloidosis in patients with neuropathy or myopathy are crucial in detecting these patients in the everyday practice of neuromuscular medicine. Herein, we review the clinical manifestations of neuromuscular amyloidosis and provide a diagnostic approach to this disorder.

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Minor salivary gland biopsy for the diagnosis of familial amyloid polyneuropathy

Cited by 16 publications

References 21 publications

Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

Neuromuscular amyloidosis: Unmasking the master of disguise

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