Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation

González‐Duarte, Alejandra; Soto, Karla Cárdenas; Martínez-Baños, Déborah; Arteaga‐Vázquez, Jazmín; Barrera, Fausto; Berenguer-Sanchez, Mauricio; Cantú-Brito, Carlos; Garcı́a-Ramos, Guillermo; Vidal, Bruno Estañol

doi:10.3109/13506129.2012.712925

Cited by 14 publications

(9 citation statements)

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“…At least it might be expected to find differences in the dry eye parameters since, in the general population, dry eye is more prevalent in women [ 30 ]. The absence of this difference could be due to more severe neuropathy in males, nullifying the expected gender difference in the evaluated dry eye parameters [ 31 ]. Despite the known influence of the gender of parent transmitting on disease systemic manifestation of FAP, with a significantly earlier age of onset in those who inherited the illness from their mother, no differences were found for ophthalmologic manifestations.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases

Beirão

Malheiro

Lemos³

et al. 2015

Amyloid

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Purpose: Assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (FAP) in a large cohort of Portuguese patients. Methods: We reviewed the medical records of 513 Portuguese FAP mutation carriers, at the Ophthalmology Service, Centro Hospitalar do Porto, between 1 January 2008 and 31 January 2013. Abnormal conjunctiva vessels (ACV), Schirmer test, tear break-up time (TBUT), amyloid deposition on the iris (DAI), scalloped iris, amyloid deposition on the anterior capsule of the lens (DAL), vitreous amyloidosis, retinal amyloid angiopathy and glaucoma were evaluated and registered. Results: Of the 513 carriers, 477 (93%) had clinical systemic disease with a median duration of 9.3 (5.1–13.7) years and 247 were men. Of these, 343 (72%) had been liver transplanted, on median of 6.6 (3.3–10.8) years before inclusion in this study. No ocular abnormalities were identified in the asymptomatic carriers (7%). The abnormalities observed with decreasing frequency were abnormal TBUT (379 patients, 79.5%, 751 eyes), abnormal Schirmer test (320 patients, 67%, 635 eyes), DAI (183 patients, 38.4%, 350 eyes), DAL (157 patients, 32.9%, 308 eyes), scalloped iris (133 patients, 27.9%, 238 eyes), glaucoma (97 patients, 20%, 165 eyes), vitreous amyloidosis (83 patients, 17.4%, 139 eyes), ACV (68 patients, 14%, 136 eyes) and amyloidotic retinal angiopathy (21 patients, 4%, 32 eyes).Patients with abnormal Schirmer test (p < 0.001), scalloped iris (p = 0.006) and vitreous amyloidosis (p = 0.007) were significantly older than the others. According to their age of onset of systemic disease, the patients have been split into early-onset (<40 years old), intermediate-onset (40–50 years old), late onset (>50 years old) and asymptomatic carriers. We observed a statistically significant difference in the prevalence of ACV (p = 0.045) and of an abnormal Schirmer test (p = 0.004) between groups. Transplanted patients have a significantly higher prevalence of DAI (p = 0.001), DAL (p = 0.009) and vitreous amyloidosis (p = 0.025) than non-transplanted patients. Of the 165 eyes with glaucoma, 92.1% had scalloped iris (p < 0.001) and of 32 eyes with retinal amyloidotic angiopathy, 68.8% had vitreous amyloidosis (p < 0.001). All prevalences increased with time of disease. The earliest ocular manifestations were abnormal Schirmer test and abnormal TBUT (12% and 17% at 5 years of clinical disease) and the least prevalent was retinal amyloid angiopathy (8% at 15 years of clinical disease). Conclusion: Ocular disorders in FAP patients are common, and their prevalence increases with disease duration. Prevalence is influenced by several factors, such as the age at onset of FAP and liver transplantation.

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Section: Discussionmentioning

confidence: 99%

Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases

Beirão

Malheiro

Lemos³

et al. 2015

Amyloid

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“…23 Firstly, clinical phenotype appears to be related to the specific TTR mutation: some variants (such as Val122Ile, Ile68Leu, Thr60Ala, and Leu111Met) induce a cardiomyopathy as the predominant feature, 24,25 while others (such as Ala97Ser and Ser50Arg) cause a pure neurological phenotype. 26,27 Also, age at onset has a great variability and seems to influence the phenotype and the clinical course, along with the geographic origin. Patients from endemic areas have traditionally been described as having an early-onset (age <50 years) or late-onset disease (age ≥50 years).…”

Section: Clinical Featuresmentioning

confidence: 99%

<p>Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care</p>

Luigetti¹,

Romano²,

Paolantonio³

et al. 2020

TCRM

112

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Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues. hATTR amyloidosis represents a diagnostic challenge for neurologists considering the great variability in clinical presentation and multiorgan involvement. Generally, patients present with polyneuropathy, but clinicians should consider the frequent cardiac, ocular and renal impairment. Especially a hypertrophic cardiomyopathy, even if usually latent, is identifiable in at least 50% of the patients. Therapeutically, current available options act at different stages of TTR production, including synthesis inhibition (liver transplantation and/or gene-silencing drugs) or tetramer TTR stabilization (TTR stabilizers), increasing survival at different disease stages.

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“…Previous cases in which patients developed ATTRm after DLT showed TTR Val30Met, Gly47Glu, Ser50Ile, Glu54Gly, Leu55Pro, Val71Ala, or Tyr114Cys mutations; this is the first report of a case with a Ser50Arg mutation ( Table 2 ). The ATTRm with TTR Ser50Arg mutation was characterized by neuropathic pain, walking disabilities, weight loss, diarrhea, orthostatic hypotension, and cardiomyopathy ( 5 , 19 ).…”

Section: Discussionmentioning

confidence: 99%

“…In addition to the TTR Val30Met mutation, Glu42Gly (p.Glu62Gly), Gly47Glu (p.Gly67Glu), Ser50Arg (p.Ser70Arg), Ser50Ile (p.Ser70Ile), Glu54Gly (p.Glu74Gly), Leu55Pro (p.Leu75Pro), Val71Ala (p.Val91Ala), Tyr114Cys (p.Tyr134Cys), and many other mutations have been reported. Although the TTR Ser50Arg mutation is a rare variant, it results in the development of various symptoms of ATTRm and has a relatively young onset age ( 4 , 5 ).…”

Section: Introductionmentioning

confidence: 99%

Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a <i>Transthyretin</i> Ser50Arg Mutation

et al. 2017

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A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously suspected upon a heart function evaluation. Biopsy specimens from the myocardium revealed transthyretin amyloidosis with the Ser50Arg mutation. Oral tafamidis therapy has inhibited the progression of neurological and cardiovascular symptoms this far. We herein report this first case of amyloid polyneuropathy and myocardial amyloidosis after DLT from hereditary ATTR amyloidosis with a transthyretin Ser50Arg mutation and discuss similar cases of other mutations.

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Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation

Abstract: ATTR Ser50Arg mutation was associated with an early onset, an unbalanced male to female ratio, a more aggressive course in males and possibly displayed anticipation.

Cited by 14 publications

References 18 publications

Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases

Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases

<p>Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care</p>

Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a <i>Transthyretin</i> Ser50Arg Mutation

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