Senile systemic amyloidosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SSA [IBIS] Wild type ATTR amyloidosis [IBIS] ATTRwt amyloidosis [IBIS] wild-type transthyretin amyloidosis [IBIS] |
| Number of Symptoms | 25 |
| OrphanetNr: | 330001 |
| OMIM Id: |
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| ICD-10: |
E85.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | > 10 of 100 000 |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Amyloidosis
-Rare systemic or rheumatologic disease |
Comment:
| Senile systemic amyloidosis (SSA) occurs rarely in patients younger than 70 years, but it can be commonly observed in postmortem myocardial evaluations of patients older than 80 years. This disease results in substantially fewer clinical symptoms than ATTR ( transthyretin (TTR) amyloidosis (ATTR)) and without symptomatic neuropathy, cardiomyopathy, or nephropathy (PMID:23337445). SSA affects approximately 25% of patients over the age of 80 and is derived from normal transthyretin. This type of amyloidosis mainly involves the atria (91%), and less often is isolated in the aorta or involves the entire heart. SSA is not always a benign condition and can result in heart failure, atrial fibrillation, and other conduction disturbances (PMID:16107109). ATTRwt is a predominantly male disease (case study of 102 patients, PMID:23608605). All patients in the AL amyloidosis group (cardiac-isolated AL group) had a detectable underlying plasma cell dyscrasia, indicating that if no plasma cell dyscrasia could be identified in this cohort, the diagnosis was ATTRwt. No patients with ATTRwt had evidence of macroglossia, which was purely an indicator of AL amyloidosis (PMID:23608605). |
Symptom Information:
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(HPO:0000790) | Hematuria | 23608605 | IBIS | 106 / 7739 | ||
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(HPO:0002321) | Vertigo | 23608605 | IBIS | 58 / 7739 | ||
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(HPO:0001278) | Orthostatic hypotension | 23608605 | IBIS | 24 / 7739 | ||
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(HPO:0100749) | Chest pain | 23608605 | IBIS | 92 / 7739 | ||
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(HPO:0002014) | Diarrhea | 23608605 | IBIS | 225 / 7739 | ||
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(HPO:0001824) | Weight loss | 23608605 | IBIS | 42 / 7739 | ||
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(HPO:0011713) | Left bundle branch block | 23608605 | IBIS | 30 / 7739 | ||
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(HPO:0001677) | Coronary artery disease | 23608605 | IBIS | 58 / 7739 | ||
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(HPO:0001635) | Congestive heart failure | 16107109 | IBIS | 232 / 7739 | ||
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(HPO:0011712) | Right bundle branch block | 23608605 | IBIS | 34 / 7739 | ||
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(HPO:0005110) | Atrial fibrillation | 16107109 | IBIS | 71 / 7739 | ||
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(HPO:0004749) | Atrial flutter | 23608605 | IBIS | 20 / 7739 | ||
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(HPO:0011675) | Arrhythmia | 24998826 | IBIS | 226 / 7739 | ||
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(HPO:0001279) | Syncope | 23608605 | IBIS | 94 / 7739 | ||
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(HPO:0001962) | Palpitations | 23608605 | IBIS | 62 / 7739 | ||
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(HPO:0011034) | Amyloidosis | 6507586 | IBIS | 12 / 7739 | ||
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(HPO:0000969) | Edema | 23608605 | IBIS | 117 / 7739 | ||
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(HPO:0002094) | Dyspnea | 23608605 | IBIS | 132 / 7739 | ||
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(MedDRA:10060880) | Monoclonal gammopathy | 23608605 | IBIS | 5 / 7739 | ||
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(MedDRA:10007509) | Cardiac amyloidosis | 6507586 | IBIS | 5 / 7739 | ||
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(OMIM) | First-degree heart block | 23608605 | IBIS | 2 / 7739 | ||
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(MedDRA:10002025) | Amyloidosis senile | 6507586 | IBIS | 1 / 7739 | ||
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(MedDRA:10007697) | Carpal tunnel syndrome | 24998826 | IBIS | 16 / 7739 | ||
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(MedDRA:10057393) | Bifascicular block | 23608605 | IBIS | 4 / 7739 | ||
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(HPO:0012735) | Cough | 23608605 | IBIS | 24 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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