Clinical Diagnosis Guidelines for Transthyretin Amyloidosis

Amyloidosis is a rare disease caused by a buildup of abnormal proteins in the body's organs and tissue. Diagnosing amyloidosis can be difficult because symptoms often seem unrelated. In fact, an amyloidosis diagnosis is generally delayed three to four years. The disease is also frequently misdiagnosed. Delayed diagnosis or misdiagnosis means delayed treatment, allowing amyloidosis to progress and increasing the risk of premature death for patients.

Recent guidelines reflect global consensus on the clues that lead to a diagnosis of transthyretin amyloidosis, a specific type of the disease. This form of amyloidosis can be hereditary, where a genetic mutation spans multiple generations, or spontaneous, where no genetic mutation exists.

Guidelines simplify disease patterns and highlight commonly affected populations. By bridging the gap between the onset of symptoms and the beginning of treatment, the guidelines can help to improve patients' quality of life and slow disease progression as early as possible.