Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features
Article Swipe
Amir Dori
,
Michael Arad
,
Yishay Wasserstrum
,
Arthur Pollak
,
Vera Nikitin
,
Merav Ben‐David
,
Jana Shamash
,
A. Nahum
,
Efrat Shavit‐Stein
,
Liran Domachevsky
,
Rafael Kuperstein
,
Dan Dominissini
,
Natalia Shelestovich
,
Menachem Sadeh
,
Elon Pras
,
Lior Greenbaum
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/acn3.51741
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/acn3.51741
Objective Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal‐dominant disorder, characterized by carpal‐tunnel syndrome, poly‐ and autonomic‐neuropathy, and cardiomyopathy. However, related symptoms and signs are often nonspecific and confirmatory tests are required. We describe the age and frequency of early symptoms and diagnostic features among individuals of Jewish Yemenite descent in Israel. Methods Records of mutation carriers were retrospectively reviewed. ATTRS77Y diagnosis was defined by the presence of amyloid in tissue and/or amyloid‐related cardiomyopathy. Results We identified the Ser77Tyr mutation at the heterozygous state in 19 amyloidosis patients (mean age at diagnosis: 62 ± 5.7 years, range 49–70) and 30 amyloid‐negative carriers. The probability for disease diagnosis increased from 4.4% at age 49 to 100% at 70 and occurred earlier in males. Initial symptoms preceded diagnosis by 5 ± 3.8 years (range 0–12) and were commonly sensory changes in the extremities. Erectile dysfunction predated these in 8/13 (62%) males. In two patients cardiac preceded neurological symptoms. Two patients declined symptoms. Electrophysiological studies near the time of diagnosis indicated a median neuropathy at the wrist in 18/19 (95%) and polyneuropathy in 13/19 (68%). Skin biopsy revealed epidermal denervation in 15/16 (94%) patients. Cardiomyopathy was identified in 16/19 (84%). Sensory complaints or epidermal denervations were present in 17/30 (57%) of amyloid‐negative carriers and co‐occurred in 10/30 (33%). Interpretation ATTRS77Y symptoms commonly occur after age 50, but may begin earlier. Median neuropathy, skin denervation and cardiomyopathy are frequently identified. Symptoms may be absent in patients and common in amyloid‐negative carriers.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/acn3.51741
- OA Status
- gold
- Cited By
- 8
- References
- 54
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4320032949
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4320032949Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/acn3.51741Digital Object Identifier
- Title
-
Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic featuresWork title - Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-02-11Full publication date if available
- Authors
-
Amir Dori, Michael Arad, Yishay Wasserstrum, Arthur Pollak, Vera Nikitin, Merav Ben‐David, Jana Shamash, A. Nahum, Efrat Shavit‐Stein, Liran Domachevsky, Rafael Kuperstein, Dan Dominissini, Natalia Shelestovich, Menachem Sadeh, Elon Pras, Lior GreenbaumList of authors in order
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https://doi.org/10.1002/acn3.51741Publisher landing page
- Open access
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://doi.org/10.1002/acn3.51741Direct OA link when available
- Concepts
-
Medicine, Transthyretin, Amyloidosis, Cardiomyopathy, Polyneuropathy, Internal medicine, Amyloid (mycology), Pathology, Biopsy, Gastroenterology, Dermatology, Surgery, Heart failureTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
8Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2, 2024: 6Per-year citation counts (last 5 years)
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54Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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