AL amyloidosis and a critical, early diagnosis

Giampaolo Merlini, MD of Fondazione IRCCS Policlinico, San Matteo Pavia, Italy gives an overview of his talk on light-chain amyloidosis or AL amyloidosis at the 2016 European Multiple Myeloma Academy (EMMA) in Madrid, Spain. Although it is a rare disease, it represents 12-15% of patients with multiple myeloma (MM). Further, there is a condition called primary AL amyloidosis, where there is a small clone in the bone marrow that produces a protein (a light chain) with an abnormal confirmation and, due to this, the protein tends to aggregate; it can move to the kidney, heart and other organs where it causes progressive dysfunction and damage. It is possible to recover completely if intervention occurs in time; early diagnosis can change the outlook for the patient. Therefore, time is of the essence, as Dr Merlini explains, and it is vital for doctors to consider that their patient may be affected. Dr Merlini further highlights how this concerns the management of monoclonal gammopathy of undetermined significance (MGUS) patients. Dr Merlini further outlines how the diagnosis is made and that there are several proteins that can cause systemic amyloidosis. The second-most common one is produced by the liver; it is called transthyretin and can also affect the heart, in particular, in older men (known as wild-type ATTR amyloidosis). The available treatments now are extremely powerful, according to Dr Merlini. The treatment of AL amyloidosis is the most successful treatment of all types of amyloidosis because it is possible to suppress the production of the proteins that is causing the disease with drugs. Therefore, the production of light chains is stopped and this usually translates into very rapid improvement in the clinical condition of the patient. If the treatment is started early, organ dysfunction can be recovered and survival is extended; more than 30% of patients survive more than 10 years, which was unthinkable a few years ago. Further, the same drug that is used for treatment is also being developed in myeloma as the clone is very similar.
This programme has been supported by Celgene and Amgen through an unrestricted educational grant to the Video Journal of Hematological Oncology.