Wild-type (senile) ATTR amyloidosis history and symptoms: Difference between revisions
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* The amount of amyloid deposition. | * The amount of amyloid deposition. | ||
= | Common symptoms of ATTR include: | ||
Patients with | <br /> | ||
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|Cardiovascular involvement | |||
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* Symptoms of chronic heart failure | |||
* Severe postural hypotension (due to deposition in the subendothelium of the peripheral vasculature) | |||
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|Neuropathic involvement | |||
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* Peripheral nerve problems are the presenting complaints in most cases of ATTR | |||
* Most often symmetric | |||
* Distal polyneuropathies that typically begin in the lower limbs, progress to the upper limbs, and then affect more proximal aspects of the limbs and the trunk. | |||
* A family history of a similar polyneuropathy is usually present | |||
* Patients with peripheral nerve deposits note sensorimotor impairment. | |||
* While the majority present with bilateral, lower-to-upper extremity symptoms, as described above, some ''TTR'' variants present as lower-limb neuropathy (eg, ''TTR'' V30M), while other variants present as primarily upper-limb neuropathy (eg, ''TTR'' I84S, ''TTR'' L58H). | |||
* Neuropathy in patients with ATTR V30M often presents as lower extremity weakness, pain, and/or impaired sensation. Autonomic dysfunction, often manifested as sexual or urinary dysfunction, is common. | |||
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|Other manifestations | |||
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* Patients with gastrointestinal deposits present with alternating diarrhea and constipation. Nausea and vomiting also occur. | |||
* Weakness and paresthesias of one or both hands, suggesting carpal ligament involvement, is often the presenting symptom in patients with the variant ''TTR'' L58H. | |||
* Ophthalmological involvement may present as follows: | |||
** Dry eye, red eye, painful eye, conjunctivitis | |||
** Floaters in eyes, decreased visual acuity | |||
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Ophthalmological involvement may present as follows: | |||
* Dry eye, red eye, painful eye, conjunctivitis | |||
* Floaters in eyes, decreased visual acuity | |||
==References== | ==References== |
Revision as of 15:17, 13 November 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History
- Coexistence of both cardiac and peripheral nervous system (PNS) involvement should always raise suspicion for ATTR-related amyloidosis.
Symptoms
The clinical manifestations of TTR-related amyloidosis (ATTR) are determined by
- The subtype of transthyretin (TTR) protein mutation
- Tissue distributio
- The amount of amyloid deposition.
Common symptoms of ATTR include:
Cardiovascular involvement |
|
Neuropathic involvement |
|
Other manifestations |
|