Cerebral amyloid angiopathy, familial

A hereditary form of cerebral amyloid angiopathy

Cerebral amyloid angiopathy, familial
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Recurrent brain hemorrhages, cognitive decline
Complications	Stroke, dementia
Onset	Middle age
Duration	Chronic
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	MRI, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Cerebral amyloid angiopathy, familial (CAA, familial) is a hereditary form of cerebral amyloid angiopathy (CAA), a condition characterized by the accumulation of amyloid proteins in the walls of the blood vessels of the brain. This accumulation can lead to brain hemorrhages, stroke, and dementia.

Pathophysiology

In familial CAA, genetic mutations lead to the abnormal production or processing of amyloid proteins, particularly the amyloid beta (Aβ) peptide. These proteins deposit in the cerebral vasculature, causing the blood vessel walls to become fragile and prone to rupture. The most common genetic mutations associated with familial CAA are found in the amyloid precursor protein (APP) gene and the cystatin C (CST3) gene.

Clinical Presentation

Patients with familial CAA typically present with recurrent intracerebral hemorrhages, often beginning in middle age. These hemorrhages can lead to acute neurological deficits, such as hemiparesis, aphasia, or seizures. Over time, the accumulation of amyloid and repeated hemorrhages can result in progressive cognitive decline and dementia.

Diagnosis

The diagnosis of familial CAA is based on clinical presentation, imaging studies, and genetic testing. Magnetic resonance imaging (MRI) is used to detect microbleeds and other changes in the brain associated with amyloid deposition. Genetic testing can identify mutations in the APP or CST3 genes, confirming the diagnosis of familial CAA.

Management

There is currently no cure for familial CAA. Management focuses on symptomatic treatment and prevention of complications. This may include controlling hypertension, avoiding anticoagulant medications, and managing cognitive symptoms. In some cases, antiplatelet therapy may be contraindicated due to the risk of bleeding.

Prognosis

The prognosis of familial CAA varies depending on the severity of the condition and the frequency of hemorrhagic events. Some individuals may experience a relatively mild course, while others may suffer from frequent hemorrhages and rapid cognitive decline.

Also see

• Cerebral amyloid angiopathy
• Alzheimer's disease
• Intracerebral hemorrhage
• Genetic disorders

edit 

WikiMD neurology

External links

• Comprehensive information from the National Institute of health.
  

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z