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Hereditary cerebral hemorrhage with amyloidosis


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My father as well as several other family members had cerebral amyloid angiopathy (CAA).  What are my chances of having the condition?  What is the difference between familial CAA and Dutch type CAA?

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The following information may help to address your question:

  • What is hereditary cerebral hemorrhage with amyloidosis? 
  • What is the difference between "familial" cerebral amyloid angiopathy and cerebral amyloid angiopathy, Dutch type?
  • Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition?
  • How can I find a genetics professional in my area?

What is hereditary cerebral hemorrhage with amyloidosis? 

Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th decade of life.[1] There are many different ways of classifying the types of HCHWA based on the underlying genetic changes, proteins involved, signs and symptoms, and the regions in which they were first described. Based on the region in which they were first described, the subtypes include:[1][2]
  • The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by mutations in the APP gene
  • The British and Danish types are caused by mutations in the ITM2B gene
  • The Icelandic type is caused by mutations in the CST3 gene 
All types of HCHWA currently described are inherited in an autosomal dominant manner.[2] There is no cure for HCHWA, however, antihypertensive therapy is typically recommended.[3][1]
Last updated: 7/19/2016

What is the difference between "familial" cerebral amyloid angiopathy and cerebral amyloid angiopathy, Dutch type?

"Familial" cerebral amyloid angiopathy is another term often used to refer to hereditary cerebral hemorrhage with amyloidosis. Hereditary cerebral hemorrhage with amyloidosis is the term more commonly used in the medical literature. Hereditary cerebral hemorrhage with amyloidosis, Dutch type is a specific form of hereditary cerebral hemorrhage with amyloidosis that is caused by a mutation (genetic change) in the APP (amyloid precursor protein) gene. There is at least one other form of hereditary cerebral hemorrhage with amyloidosis: the "Icelandic type," which is due to a mutation in the cystatin C gene.[4]
Last updated: 7/19/2013

Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition?

To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical and family history in order to provide you with your specific risks. To learn more about genetic consultations, click here.
Last updated: 7/19/2013

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 11/30/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.

References References


  1. Dr Joost HAAN, Dr G.M. [Gisela] TERWINDT. Hereditary cerebral hemorrhage with amyloidosis. Orphanet. February 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458.
  2. hereditary cerebral amyloid angiopathy. Genetics Home Reference. May 2012; https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy.
  3. Menon RS. Cerebral Amyloid Angiopathy. Medscape. April 25, 2016; http://emedicine.medscape.com/article/1162720-overview.
  4. Cerebral hemorrhage with amyloidosis, hereditary, Dutch type; HCHWAD. Online Mendelian Inheritance in Man (OMIM). October 4, 2007; http://omim.org/entry/605714. Accessed 3/5/2008.

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