While our findings have implications for the number of patients with advanced amyloidosis seen by physicians or nurses, further study and more representative data will be necessary to better understand the pattern of presentation of amyloidosis in the USA.
Amyloidosis is uncommon because the incidence of amyloidosis is 3 to 10 cases per 1,000,000. This would be an unusually high figure if it were not for the very low mortality rate (typically ≤ 10%). Treatments include chemotherapy and plasma exchange. New agents in development use a monoclonal antibody targeting amyloid deposits for treatment.
Although some people develop amyloidosis because of a genetic predisposition, in many cases the cause is unknown. Genetic mutation is believed to be responsible for a small subset of cases. There is no evidence that liver disease causes or enhances the formation of amyloid, and blood vessels may play an important role in the accumulation of the amyloid in the tissues.
The incidence of amyloidosis in various countries is about 1/1,000,000, but it is difficult to find randomized control trials to test the effectiveness of treatments. For example, many patients enrolled in trials have received some sort of treatment before enrollment and the randomized control trials may not have included all patients who should have been enrolled in the trial. Patients should be well- counseled and informed about the risks and benefits of treatment, and must consent to the participation in the trial.
Patients with systemic amyloidosis are more likely to be younger in age, male, and present with symptoms of systemic organ involvement and systemic inflammation in the medical history.
Amyloidosis may present with the signs and symptoms of heart disease such as shortness of breath, fatigue, and loss of appetite. Skin abnormalities, including erythema of palms and soles, may also appear.\n
Survival in patients with AL amyloidosis can be very good when disease is properly treated with proper management. Lifelong outpatient hemodialysis is the most common cause of death. Survival rate in patients with ATTR amyloidosis has been affected by the development of disease-modifying therapies(DMTs).
f-18 florbetapir PET used alone showed a high specificity (94.6%) in the diagnosis of AL amyloidosis irrespective of other treatments. However, its accuracy was lower at the time of clinical diagnosis.
F-18 florbetapir PET is highly reproducible and does not result in significant change in routine clinical practice. Results from a recent clinical trial show excellent potential applicability of PET in evaluating progression and disease management in AL amyloidosis. The potential use as an initial workup in this disorder is discussed.
We found that the rapid progression to dialysis is most common in patients at intermediate risk. Findings from a recent study suggest that the use of a prognostic algorithm tailored to one's risk of amyloidosis-associated death may be useful to identify patients in whom early intervention may be most beneficial.
This pilot study of f-18 FLB PET/c-11 acetate PET in patients with amyloidotic polyneuropathy has shown a high correlation of disease severity with HRQOL. Patients with disease in remission had the highest reported scores on HRQOL domains.
Genetic predisposition may contribute to the development of AA amyloidosis. It appears that AA amyloidosis in this family involves several families and not a single genetic defect. The high concordance between the two siblings in each of the families also suggests the need for the establishment of a family registry and the study of other families to determine the genetic predisposition to AA amyloidosis in this family.