Hereditary transthyretin amyloidosis (hATTR) is a rare, progressive and debilitating genetic disease caused by a gene change or mutation in the transthyretin (TTR) protein. It is a type of amyloidosis, a group of four diseases with various causes and symptoms.

What are the symptoms of hATTR? 

Although people are born with hATTR, there are 150 different known mutations that cause the condition.⁹ For most people, symptoms don’t appear until later in life, but in some cases symptoms start in early adulthood.¹⁰ Some babies are diagnosed at birth through the newborn heel prick text. If the blood sample shows the blood to be lipaemic and a yellow-straw colour, other tests are done to identify the problem.¹¹

Understanding family and genetic history will help to understand when and how symptoms will start.¹² Even within families, symptoms may differ and affect different parts of the body including:¹³ 

How is hATTR diagnosed? 

For doctors to identify hATTR they have to look for the underlying causes of symptoms.¹⁴ There are several diagnostic tests that can show if a patient has hATTR. These include: 

• Genetic testing
• Biopsy
• Blood test
• Urine test
• Bone Scan
• Cardiac imaging
• Nerve conduction
• Eye exam¹⁵