Unmet Needs Persist for Amyloidosis Patients in Europe

Share on facebook
Share on twitter
Share on linkedin
For patients with rare diseases, the path to diagnosis can be long and difficult. But, as a new policy paper from the European Alliance for Patient Access notes, that’s only one of several hurdles that patients face.

Unmet Needs in hATTR Amyloidosis in Europe” explores challenges for patients living with a rare disease caused by a build-up of abnormal protein in different organs. Hereditary transthyretin (hATTR) amyloidosis can lead to debilitating cardiovascular, neurological, renal or other symptoms. Timely diagnosis and treatment can slow or even stop the progression of the disease. Yet gaps in access and unmet needs make that difficult for some patients.

As identified by amyloidosis stakeholder organisations from across Europe, five unmet needs in particular inhibit optimal care:

  1. Early & Accurate Diagnosis: Due to the lack of awareness, and the complexity and wide array of symptoms, hATTR amyloidosis patients can often experience years of misdiagnoses. They may bounce from specialist to specialist before putting a name to their disease. This lengthy diagnosis process delays the onset of treatment.
  2. Equitable Access to Treatment: Three medications are approved by the European Medicines Agency to treat hATTR amyloidosis, but approval does not equate to access for all patients. Access to these medications varies based on the country where the patient resides, often depending upon whether the government or health technology assessment organisation deems the medication cost effective.
  3. Guidance on Genetic Testing: Genetic testing can be an important tool for identifying and managing a hereditary disease like hATTR amyloidosis. Patients and their families, however, may receive little support in this area. They are often left to navigate complex decisions on their own.
  4. Support for Families & Carers: Amyloidosis can levy a heavy burden on families and carers, but their role is frequently overlooked. They need to be acknowledged as a core part of the patient’s care team and provided with adequate educational and emotional support.
  5. Broad Access to Guidelines: Guidelines for the treatment and diagnosis of hATTR amyloidosis exist but are rarely accessible to people outside of the health care system, such as patient advocacy groups. Broader availability of these guidelines can promote awareness about hATTR amyloidosis and could spur much-needed policy change.

Facilitating better treatment outcomes and improved quality of life stands to benefit patients, their carers and families, and their communities. Achieving those outcomes, however, must begin with policymakers and advocates working hand in hand to address these significant and persistent unmet needs.