According to the packet's disease definition, hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. It is characterized by the deposit of an abnormal protein called amyloid in multiple organs, disrupting organ tissue structure and function. The definition states that amyloid deposits most often occur in the heart, kidneys and nervous system, and that there are many types associated with different gene mutations and abnormal proteins.

The definition names transthyretin amyloidosis (ATTR) as the most common type, in which the deposits are most often made up of transthyretin protein produced in the liver. Other examples it lists include apolipoprotein AI, gelsolin, lysozyme, cystatin C, fibrinogen A-alpha chain and apolipoprotein AII amyloidosis. The packet also lists subtypes such as familial amyloid neuropathy and Finnish type amyloidosis. Prevalence is not certified in this packet.

No phenotype list or age-of-onset category is certified in this packet. The definition states that amyloid deposits most often occur in the tissues of the heart, kidneys and nervous system, and that while symptoms may appear in childhood, most individuals do not experience symptoms until adulthood.

The packet has no certified causative-gene entry for this group of conditions. The definition states that the many types of hereditary amyloidosis are associated with different gene mutations and different abnormal proteins, and that most types are inherited in an autosomal dominant manner.

The packet contains no certified diagnostic methods, GeneReviews diagnosis section or newborn screening information for hereditary amyloidosis, so diagnostic practice is not described here.

The packet lists no FDA-approved treatment records, so approved options are not certified here. The disease definition states that treatment is focused on addressing symptoms of organ damage and on slowing the production of amyloid when possible, through methods such as liver transplants. No further treatment information is supplied.

Prognosis is not certified in this packet.

The packet certifies multiple active clinical studies related to hereditary amyloidosis. They include observational studies of a biomarker in carriers of transthyretin variants and in people with hereditary transthyretin-mediated amyloidosis, imaging studies, a biobank and data registry, and a cardiac rehabilitation program study. Sponsors include industry and academic institutions, and the intervention types are summarized as drug therapy, biologic therapy and other interventions. The packet's literature digest describes the publication landscape as dominated by reviews and meta-analyses. Active clinical trials for this condition are listed on ClinicalTrials.gov.