ATTR

Mutant, called familial ATTR amyloidosis is an inherited disease, where the body makes a mutant form of a protein called "transthyretin."  Transthyretin is abbreviated "TTR" and is the reason this disease is called familial ATTR amyloidosis. While everyone produces transthyretin, the mutated form is more likely to form into amyloid fibrils. Many different mutations have been identified.

Usually affects the gastrointestinal tract, heart, and nervous system.

Patients may experience heart palpitations, neuropathy, digestive issues (e.g. Constipation), and, in severe cases, heart failure and end organ damage.

Wild-type (senile) ATTR amyloidosis is similar to familial ATTR amyloidosis, except the protein that is deposited is the normal, non-mutated transthyretin protein. The normal transthyretin protein is less prone to forming amyloid deposits than the mutated form.

As a result, patients only develop the disease in older age, usually at 65 years of age or older. Because amyloid deposits accumulate slowly in this form of the disease, the prognosis is generally better than AL (primary) amyloidosis and familial ATTR amyloidosis.

Mainly affects the heart, causing restrictive cardiomyopathy.

Patients often experience heart failure symptoms such as shortness of breath, fatigue, and swelling of the legs and ankles.

1- Tafamidis binds with high affinity and selectivity to TTR and kinetically stabilizes the protein, slowing disease progression  

2- Symptomatic treatment to ease symptoms caused by other problems like heart failure, arrhythmias and neuropathy.  

3- In rare cases organ transplant may be needed