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New Insights into the clinical evaluation of hereditary transthyretin amyloidosis patients: A single center’s experience
Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin.ORCID-id: 0000-0002-1175-2369
Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin.
Umeå universitet, Medicinska fakulteten, Institutionen för farmakologi och klinisk neurovetenskap.
Umeå universitet, Medicinska fakulteten, Institutionen för kirurgisk och perioperativ vetenskap, Klinisk fysiologi.
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2012 (Engelska)Ingår i: Degenerative Neurological and Neuromuscular Disease, ISSN 1179-9900, Vol. 2012:2, s. 93-106Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Over the last decade, new medical treatment modalities have emerged based on increased insights into amyloid formation. With the increased possibilities for treatment of amyloidosis caused by transthyretin (TTR) amyloid deposits comes the need for diagnostic procedures for early diagnosis and better tools to follow disease progression. This is of particular importance in clinical trials evaluating the efficacy of new treatments. Until recently, the treatment of TTR amyloidosis (ATTR) was based solely on liver transplantation, a procedure that has halted disease progression in many patients. Liver transplantation has been especially effective in patients under the age of 50 years carrying the TTR V30M mutation, whereas the outcome of the procedure has been variable for others, particularly elderly male patients and those carrying a non-V30M mutation. This review concentrates on new insights derived from our center's experience with liver transplantation, how to implement this experience in evaluation of new treatment modalities for ATTR, and how to facilitate early diagnosis of neuropathy with easily available diagnostic tools. Attention has focused on manifestations of the disease that involve the heart and the peripheral nervous system; change in peripheral nerve function has been the primary endpoint in two controlled clinical trials, one finished and one ongoing. New insights into the amyloid formation process and the lessons learned from liver transplantation give the opportunity to design potentially effective treatment modalities for ATTR. It appears reasonable to suspect that a combination of different treatment modalities may be required to treat the disease, and that different treatment regimes will be designed according to the phenotype of the disease. For the patients and their relatives there is now a solid foundation for optimism, with prospects of several effective medical treatment possibilities within the coming decade.

Ort, förlag, år, upplaga, sidor
Dove Press , 2012. Vol. 2012:2, s. 93-106
Nyckelord [en]
neuropathy, cardiomyopathy, amyloid, diagnostic tools, new treatment modalities
Nationell ämneskategori
Medicin och hälsovetenskap
Identifikatorer
URN: urn:nbn:se:umu:diva-187000DOI: 10.2147/DNND.S24652OAI: oai:DiVA.org:umu-187000DiVA, id: diva2:1589085
Forskningsfinansiär
Hjärt-LungfondenVästerbottens läns landstingTillgänglig från: 2021-08-30 Skapad: 2021-08-30 Senast uppdaterad: 2021-08-30Bibliografiskt granskad

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Suhr, Ole B.Gustavsson, SandraHeldestad, VictoriaHörnsten, RolfLindqvist, PerNordh, ErikWiklund, Urban

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Suhr, Ole B.Gustavsson, SandraHeldestad, VictoriaHörnsten, RolfLindqvist, PerNordh, ErikWiklund, Urban
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Institutionen för folkhälsa och klinisk medicinInstitutionen för farmakologi och klinisk neurovetenskapKlinisk fysiologiInstitutionen för strålningsvetenskaper
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Degenerative Neurological and Neuromuscular Disease
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