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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hereditary amyloidosis


Other Names for this Disease
  • Amyloidosis hereditary
  • Familial amyloidosis
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Symptoms


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What are the signs and symptoms of hereditary amyloidosis?

There is a broad range of symptoms and age of onset for individuals with different types of hereditary amyloidosis. The extent of organ involvement may range from very localized amyloid deposition to general systemic (wide-spread) involvement. When amyloid is abnormally deposited within the body, it leads to dysfunction of the organs involved. In many cases, the specific gene and/or mutation involved determines which organs are affected. Generally, the type of protein, the tissue in which it is deposited, and the amount of deposition determines the signs and symptoms present in each individual.[1] The course of the disease may be similar among members of the same family, but this is not always the case. There have been instances where affected individuals remain without symptoms, have late-onset, or more severe disease than other affected family members.[2]

The following is a brief description of the reported features in several forms of hereditary amyloidosis:

  • Familial transthyretin amyloidosis - Amyloid deposits in the nerves of the peripheral nervous system result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system (which controls involuntary body functions such as blood pressure, heart rate, and digestion) as well as the central nervous system (brain and spinal cord) may also be affected. Other areas of the body affected may include the heart, kidneys, eyes, and gastrointestinal tract.[3]
  • Apolipoprotein A-1 amyloidosis - This form is characterized by late onset and systemic disease with predominant renal involvement. Other parts of the body affected include the liver, heart, skin and larynx.[4][5]
  • Apolipoprotein A-2 amyloidosis - This type chiefly affects the kidneys and is characterized by slowly progressive renal disease.[2]
  • Gelsolin amyloidosis (also known as Finnish type) - Characteristics include slowly progressive cranial neuropathy (damage to the cranial nerves), peripheral neuropathy, lattice corneal dystrophy, and skin disease.[6][5]
  • Fibrinogen amyloidosis - This is a systemic type with renal failure being prominent; there is also vascular, cardiac (heart), and neurologic involvement.[7][5]
  • Lysozyme amyloidosis - This is a non-neuropathic form that is systemic and affects the kidneys, gastrointestinal tract, liver, lymph nodes, and other parts of the body.[5]
  • Cystatin C amyloidosis - This form mainly affects the brain and is characterized by multiple strokes and mental status changes beginning in the second or third decade of life. Many affected individuals die by 40 years of age.[6]
Last updated: 9/16/2011

References
  1. Peter D. Gorevic. An overview of amyloidosis. UpToDate. November 2, 2010; http://www.uptodate.com/contents/an-overview-of-amyloidosis?source=search_result&search=amyloidosis&selectedTitle=1%7E150. Accessed 9/16/2011.
  2. Peter D. Gorevic. Genetic factors in the amyloid diseases. UpToDate. February 7, 2011; http://www.uptodate.com/contents/genetic-factors-in-the-amyloid-diseases?source=search_result&search=amyloidosis&selectedTitle=11%7E150#H13. Accessed 9/16/2011.
  3. Transthyretin amyloidosis. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis. Accessed 7/15/2010.
  4. Gregorini G et al. Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis. J Am Soc Nephrol. December 2005; 16(12):3680-3686.
  5. Granel, Brigitte et al. Lysozyme Amyloidosis: Report of 4 Cases and a Review of the Literature. Medicine. January 2006; 85(1):66-73.
  6. Robert O Holmes. Amyloidosis. eMedicine. July 30, 2009; http://emedicine.medscape.com/article/335414-overview#aw2aab6b2. Accessed 9/16/2011.
  7. Stangou AJ et al. Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation. Blood. April 15, 2010; 115(15):2998-3007.
  8. Helen J Lachmann. Amyloidosis, Familial Renal. eMedicine. October 29, 2009; http://emedicine.medscape.com/article/246221-overview. Accessed 9/16/2011.