Wild-type (senile) ATTR amyloidosis history and symptoms
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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.
Cardiovascular involvement
Patients with cardiac deposition often present with symptoms suggesting chronic heart failure (ie, dyspnea on exertion, peripheral edema, elevated jugular venous pressure, hepatojuglular reflux) and/or arrhythmias (ie, palpitations, lightheadedness, syncope). [17]
Deposition in the subendothelium of the peripheral vasculature can lead to severe postural hypotension. [17]
Neuropathic involvement
Peripheral nerve problems are the presenting complaints in most cases of ATTR, and can be reliably differentiated from other types of PNS disease by the fact that they are 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 and hence warrants a rigorous family history discussion as part of the history.
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). [1]
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. [2]
Other manifestations
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. It can also be observed in patients with other variants. Carpal tunnel syndrome sometimes precedes other clinical manifestations by as much as 20 years. Patients with normal-sequence TTR also may develop localized symptomatic carpal ligament deposition.
Ophthalmological involvement may present as follows:
- Dry eye, red eye, painful eye, conjunctivitis
- Floaters in eyes, decreased visual acuity
A study by Phull et al showed a high prevalence of coexistent monoclonal gammopathy of undetermined significance (MGUS) in patients with ATTR, with a rate higher than the general population. [20]