Heredofamilial amyloidosis

Heredofamilial amyloidosis
Synonyms	Familial amyloid polyneuropathy, familial amyloidotic polyneuropathy
Pronounce	N/A
Specialty	N/A
Symptoms	Peripheral neuropathy, autonomic dysfunction, cardiomyopathy, nephropathy
Complications	Heart failure, renal failure, gastrointestinal issues
Onset	Typically in adulthood
Duration	Progressive
Types	N/A
Causes	Genetic mutations in transthyretin (TTR) or other amyloidogenic proteins
Risks	Family history of the condition
Diagnosis	Genetic testing, biopsy with Congo red staining, immunohistochemistry
Differential diagnosis	Primary amyloidosis, secondary amyloidosis, multiple myeloma
Prevention	N/A
Treatment	Liver transplantation, tafamidis, diflunisal, patisiran, inotersen
Medication	N/A
Prognosis	Variable, depends on the specific mutation and organ involvement
Frequency	Rare
Deaths	N/A

Heredofamilial amyloidosis is a type of amyloidosis that is inherited in an autosomal dominant manner. It is characterized by the deposition of amyloid (abnormal proteins) in various body tissues and organs, which can lead to a variety of symptoms and complications.

Causes

Heredofamilial amyloidosis is caused by mutations in various genes. These mutations lead to the production of abnormal proteins that form amyloid. The amyloid then deposits in various tissues and organs, causing damage and dysfunction.

Symptoms

The symptoms of heredofamilial amyloidosis can vary widely, depending on which tissues and organs are affected. They can include:

• Peripheral neuropathy
• Autonomic neuropathy
• Cardiomyopathy
• Nephrotic syndrome
• Vitreous opacities

Diagnosis

The diagnosis of heredofamilial amyloidosis is based on the presence of characteristic symptoms, a family history of the disease, and the results of various tests. These tests can include:

• Biopsy of affected tissues
• Genetic testing
• Blood tests
• Urine tests

Treatment

The treatment of heredofamilial amyloidosis is aimed at managing symptoms and slowing the progression of the disease. It can include:

• Medications
• Dietary changes
• Physical therapy
• Surgery

Prognosis

The prognosis for individuals with heredofamilial amyloidosis can vary widely, depending on the severity of the disease and the organs affected. Some individuals may have a relatively normal lifespan, while others may have a significantly shortened lifespan due to complications of the disease.

See also

• Amyloidosis
• Genetic disorders
• Neuropathy
• Cardiomyopathy
• Nephrotic syndrome

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