Hereditary cerebral hemorrhage with amyloidosis

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 on 05-01-20

What is hereditary cerebral hemorrhage with amyloidosis - Dutch type?

Hereditary cerebral hemorrhage with amyloidosis - Dutch type (HCHWA-D) is the most common type of hereditary cerebral hemorrhage with amyloidosis (HCHWA). It is named for the families in two coastal villages in the Netherlands who were first documented with the condition. HCHWA-D typically presents with stroke between 39 and 76 years of age. It is caused by mutations in the APP gene and is inherited in an autosomal dominant manner.

Last updated on 05-01-20

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.

Last updated on 05-01-20

What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type?

hereditary cerebral hemorrhage with amyloidosis - Dutch type (HCHWA-D) is caused by mutations in the APP gene. The APP gene provides instructions for making a protein called amyloid precursor protein. This protein is found in many tissues and organs, including the brain and spinal cord (central nervous system). The function of the amyloid precursor protein is still being studied; however, researchers suspect that it is involved in the binding of other proteins on the surface of cells and that it might play a role in the development and maintenance of nerve cells (neurons).

Mutations in the APP gene lead to the production of proteins that are less stable than normal and that tend to cluster together. These aggregated proteins form protein clumps called amyloid deposits that build-up in certain areas of the brain and its blood vessels. The amyloid deposits, known as plaques, damage brain cells, eventually causing cell death and impairing various parts of the brain, leading to the symptoms of HCHWA-D.

Last updated on 05-01-20

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. 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:

All types of HCHWA currently described are inherited in an autosomal dominant manner. There is no cure for HCHWA, however, antihypertensive therapy is typically recommended.

Last updated on 05-01-20

What are the signs and symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type?

Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type (HCHWA-D) have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). The first stroke usually occurs between the ages of 45 and 65 years, and is not caused by hypertension or hemorrhagic diathesis (bleeding tendency).

Signs and symptoms of HCHWA-D may include: seizures/epilepsy, nausea, vomiting, progressive headache, focal neurological signs (double or decreased vision, speech difficulties, confusion, delirium, weakness or paralysis, sensation changes or loss of sensation, progressive intellectual deterioration and memory disturbance), and impairment of consciousness. Psychiatric abnormalities, including dementia are also common, with some patients developing dementia without intracranial hemorrhage.

Last updated on 05-01-20

How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated?

There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type (HCHWA-D). Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. Seizures may be treated with anticonvulsants such as phenytoin and carbamazepine.

The management of intracranial hemorrhage (ICH) related to HCHWA-D is identical to the standard management of ICH. The main objectives include discontinuing use of anticoagulation agents (for example, warfarin), managing intracranial pressure, and preventing complications.

Last updated on 05-01-20

Name: Amyloidosis Foundation 7151 N. Main Street Suite 2
Clarkston, MI, 48346, United States
Toll Free: 877-AMYLOID (1-877-269-5643) Email: info@amyloidosis.org Url: http://www.amyloidosis.org/
Name: Amyloidosis Support Groups Inc. 232 Orchard Drive
Wood Dale, IL, 60191, United States
Phone: 630-350-7539 Toll Free: 866-404-7539 Email: info@amyloidosissupport.org Url: https://www.amyloidosissupport.org/
Name: Amyloidosis Australia, Inc. 131-133 Napier Street St. Arnaud,
Victoria, 3478
Australia
Phone: 03 5495 1169 Email: info@amyloidosis.com.au Url: http://www.amyloidosis.com.au/

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