Pure neural leprosy or amyloid neuropathy? Systematic review and clinical case report

SUMMARY OBJECTIVE: To review the literature and to report a clinical case with initial suspicion of pure neural leprosy and final diagnosis of amyloid neuropathy. METHODS: The study was conducted in two stages. In stage one, a systematic literature review was carried out, with searches performed in the PubMed, Medline, and Lilacs databases, as well as in the leprosy sectoral library of the Virtual Health Library, using the following descriptors: neuritic leprosy, pure neural leprosy, primary neural leprosy, pure neuritic leprosy, amyloid polyneuropathy, amyloid neuropathies, and amyloid polyneuropathy. The search was carried out on May 28, 2020. Clinical trials, cohort studies, cross-sectional studies, clinical cases, and case studies published in Portuguese, English or Spanish between 2010 and 2020 were included. Stage two reports a case with initial suspicion of pure neural leprosy. Laboratory tests, electroneuromyography, ultrasound, and biopsy of the sural nerve were requested. RESULTS: Twenty-three scientific texts were included. No publications were found that contained both topics together. The challenging diagnosis of pure neural leprosy and the possibility of using auxiliary resources in diagnosis were the most emphasized themes in the studies. In the clinical case, the patient's electroneuromyography showed sensitive and motor polyneuropathy of the lower limbs, which was predominantly sensory and axonal, symmetrical, of moderate intensity, and the mixed type (axonal-demyelinating). Ultrasonography of the sural nerve revealed changes in the contour of the deep fibular nerves; biopsy of the sural nerve showed an accumulation of amorphous eosinophilic material in the nerve path, and Congo red stain showed apple-green birefringence of the deposit under polarized light. The final diagnosis was amyloid neuropathy. CONCLUSIONS: The final clinical diagnosis was amyloid neuropathy. The diagnosis of pure neural leprosy in endemic areas in Brasil is still a challenge for the health system.

Tafamidis, a Noninvasive Therapy for Delaying Transthyretin Familial Amyloid Polyneuropathy: Systematic Review and Meta-Analysis

BACKGROUND AND PURPOSE: Tafamidis functions to delay the loss of function in transthyretin familial amyloid polyneuropathy (TTR-FAP), which is a rare inherited amyloidosis with progressive sensorimotor and autonomic polyneuropathy. This systematic literature review and meta-analysis evaluated the efficacy and safety of tafamidis in TTR-FAP patients, with the aim of improving the evidence-based medical evidence of this treatment option for TTP-FAP. METHODS: A systematic search of the English-language literature in five databases was performed through to May 31, 2018 by two reviewers who independently extracted data and assessed the risk of bias. We extracted efficacy and safety outcomes and performed a meta-analysis. Statistical tests were performed to check for heterogeneity and publication bias. RESULTS: The meta-analysis identified six relevant studies. The tafamidis group showed smaller changes from baseline in the Neuropathy Impairment Score–Lower Limbs [mean difference (MD)=−3.01, 95% confidence interval (CI)=−3.26 to −2.75, p < 0.001] and the Norfolk Quality of Life-Diabetic Neuropathy total quality of life score (MD=−6.67, 95% CI=−9.70 to −3.64, p < 0.001), and a higher modified body mass index (MD=72.45, 95% CI=69.41 to 75.49, p < 0.001), with no significant difference in total adverse events [odds ratio (OR)=0.69, 95% CI=0.35 to 1.35, p=0.27]. The incidence of adverse events did not differ between tafamidis and placebo treatment except for fatigue (OR=0.13, 95% CI=0.02 to 0.72, p=0.02) and hypesthesia (OR=0.16, 95% CI=0.03 to 0.92, p=0.04). CONCLUSIONS: This systematic review and meta-analysis has demonstrated that tafamidis delays neurologic progression and preserves a better nutritional status and the quality of life. The rates of adverse events did not differ between the patients in the tafamidis and placebo groups. Tafamidis might be a safer noninvasive option for patients with TTR-FAP.

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

BACKGROUND AND PURPOSE: This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. METHODS: The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. RESULTS: The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. CONCLUSIONS: South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.

Tafamidis for a Transplant Patient with Transthyretin Amyloid Polyneuropathy

No abstract available.

Primary amyloidosis and report of a case with skin and peripheral nerve involvement

Amyloidosis represents diseases, causing abnormal Amyloid precipitations. It is a rare condition with unknown origin that may be associated with abnormal production of Immunoglobulin by plasma cells. Skin presentations consist of papule and plaques, usually in axillary's folds, perianal, facials and neck regions. Most patients develop peripheral nerves engagement in the form of paresthesia and autonomic involvement. Primary Amyloidosis may remain asymptomatic, as far as extensive tissues destructions develop. This article is due to report a rare case of primary Amyloidosis with the involvement of skin and peripheral nerves. A 62 years old man with fatigue, anorexia, weight loss, acute diarrehea, and periodic attacks of consciousness loss. Skin lesions as echimosis and telangioectasia in the cheeks, nose, around the eyes and on the front of neck, were presented.The patient had sensorial polyneuropathy. The spleen was larger than normal.These was a brief increase in the serum gamaglobulins. Rectum and bone marrow biopsy were normal, but skin biopsy showed Amyloidosis

Polyneuropathy Associated with IgA Paraproteinemia and Amyloidosis: A Case Report and Literature Review

Paraproteinemia potentially causes peripheral neuropathy via an unknown underlying pathogenetic mechanism. We report a case of pathologically proven amyloid neuropathy with AL amyloidosis with an IgA kappa light chain, which was initially diagnosed as neuropathy associated with monoclonal gammopathy of undetermined significance. This case indicates that in cases of neuropathy with paraproteinemia, the other potential causes should be excluded by appropriate means, especially pathological evaluations.

Axoval neuropathy as initial manifestation of primary amyloidosis: report of a case submitted to bone marrow transplantation

A amiloidose é uma síndrome caracterizada pela deposição no meio extracelular de material protéico altamente insolúvel e que pode afetar vários órgãos. Pode ocorrer como doença generalizada e pode ser idiopática (amiloidose primária). Descrevemos o caso de mulher de 48 anos com neuropatia axonal associada a proteinúria na qual a investigação final resultou no diagnóstico de amiloidose primária (AL). Foi submetida a transplante autólogo de medula óssea sem complicações. Discutiremos aspectos relacionados ao diagnóstico da neuropatia e do tratamento atual da AL.

Estudio clínico de pacientes con neuropatía mielo-óptica / Clinical studies of patients with myeloptic neuropathy

Se detectó, en una región del distrito de Buzi, provincia de Sofala, en Mozambique, la aparición de numerosos casos con trastorno de la marcha, parestesias y alteraciones visuales, lo que motivó la investigación de este fenómeno. Se estudiaron 60 pacientes a quienes se les realizó un detallado interrogatorio y un examen neurológico minucioso dirigidos al diagnóstico clínico de la enfermedad. Se encontró que los síntomas predominantes fueron el cansancio, la pérdida de peso, parestesias, dolor en los miembros inferiores y disminución de la visión. En el 56,6 porciento había manifestaciones que indicaban una forma mixta de neuropatía periférica con toma del nervio óptico. Se obtuvieron evidencias clínicas de lesión de los sistemas nerviosos central y periférico y, en algunos casos, de la rama auditiva del VIII par craneal, con una mayor afectación en el grupo de edad entre 21 y 40 años. Al parecer, la enfermedad estaba relacionada con factores múltiples: entre los más importantes el nutricional y el tóxico

Familial amyloid polyneuropathy in a Sri Lankan family.

A woman who presented with features of peripheral sensory, motor and autonomic neuropathy and amyloid deposits in the vitreous due to familial amyloid polyneuropathy (FAP) is described. Her father had died of a similar illness and one of her brothers and her two children had lesions suggestive of early amyloid deposits in the vitreous. Reports of familial amyloidosis are rare from Asian countries and it has not been reported in Sri Lanka previously.

Sindrome de Guillain Barre / Guillain Barre Syndrome

El Sindrome de Guillain Barre es una polineuropatia simetrica aguda, facil de diagnosticar pero dificil de definir. La incidencia aproximada es de 0.95 casos por cada 100.000 habitantes. Se manifiesta 1-3 semanas posteriores a una enfermedad viral respiratoria y el LCR se caracteriza por presentar un contenido elevado de proteinas y una respuesta celular minima. En el presente articulo se describen 3 casos de sindrome de Guillain-Barre y se revisa la literatura actual.

A Case of the Primary Amyloid Polyneuropathy

Amyloidosis which represents neuropathy due to the systematic amyloid fibril deposits has two types; the non-hereditary primary amyloid polyneuropathy (PAP) and the familial amyloidotic polyneuropathy (FAP). The clinical manifestations of the two diseases are similar, but the FAP is an autosomal dominant disease and has better prognosis than the PAP. The PAP is a rare disease which displays relatively rapid progress and severe hypoalbum-inemia. We report a 50-year-old male patient admitted due to weight loss, orthostatic hypotension, and the unique sensory changes which pain and temperature sensations are decreased on the periumbilical area and lower extremity. The patient shows severe proteinuria, hypoalbuminemia and generalized edema. There are definite amyloid deposits in the biopsied sural nerve in the light and polarizing microscope and amyloid fibrils in the electron microscope. But no abnormality of transthyretin gene is found in this patient and one cousin. The transthyretin DNA analysis is useful for the differential diagnosis of PAP and FAP.

A Case of Fainiliai Amyloid Neuropathy presenting as Autonomic Failure

No abstract available.

Amiloidosis primaria con compromiso oseo a nivel de columna vertebral, hepatomegalia y polineuropatía

Describimos el caso de una paciente con amiloidosis sistémica adquirida, quien presentó compromiso de la columna lumbar con lesiones líticas y fracturas de cuerpos vertebrales por invasión amiloide, polineuropatía documentada por electromiografía y hepatomegalia evidenciada por gamagrafía y examen físico. El compromiso directo de hueso se corroboró por biopsia de L4. La paciente se ha manejado con colchicina fundamentalmente y en la actualidad tiene supervivencia de 12 años y se encuentra en buen estado general. Es el primer caso en la literatura médica confirmado de affeción de columna lumbar por amiloidosis.