At Porterhouse, we are proud to support World Amyloidosis Day. Our article shines a light on this rare condition to help drive greater understanding, improve diagnosis, treatment, and care for those affected by the disease.
Amyloid protein is well known for its association with conditions such as Alzheimer’s and Parkinson’s disease, but systemic amyloidosis is much less recognised and receives significantly less public attention [1]. An estimated one new case occurs per 100,000 individuals globally every year, with over 10,000 patients worldwide affected by hereditary forms of the disease alone [2].
After diagnosis, patients with amyloidosis typically face a limited life expectancy of 3 to 5 years, with delays in detection and treatment contributing to a poor prognosis [2]. This highlights the urgent need for greater awareness and education. In response, World Amyloidosis Day, organised by the Amyloidosis Alliance, aims to raise awareness and improve treatment quality.
What is amyloidosis?
Amyloidosis refers to a group of heterogeneous disorders, all characterised by the deposition of amyloid [1]. Subtypes are distinguished based on the affected organs, clinical manifestations and the specific precursor protein involved [3], of which 36 have been identified [4] (Table 1). The subtypes are classified into hereditary forms (caused by inherited mutations) or acquired forms (resulting from mutations that occur during a person’s lifetime). These account for approximately 20% and 80% of global cases, respectively [2].