Abeta Amyloidosis Italian Type C3888308
Hereditary cerebral amyloid angiopathy with APP gene mutation. Runs in families. Can lead to hemorrhagic stroke.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Restrictive Cardiomyopathy
Stiffening of heart walls due to amyloid infiltration, impairing heart's ability to fill properly.
Seek emergency care for chest pain, severe shortness of breath, or fainting spells.
Dyspnea on Exertion
Shortness of breath with activity due to cardiac involvement or pulmonary amyloid deposits.
Seek immediate care for sudden worsening shortness of breath or difficulty breathing at rest.
Arrhythmias
Abnormal heart rhythms due to amyloid infiltration of the cardiac conduction system.
Seek emergency care for palpitations, rapid heartbeat, or fainting.
Proteinuria
(renal)Excess protein in urine due to amyloid deposition in kidney glomeruli, often presenting as foamy urine.
Frequency: 60-80% of patients
Peripheral Neuropathy
(neurologic)Nerve damage causing numbness, tingling, or burning pain, typically starting in hands and feet.
Frequency: 30-50% of patients
Autonomic Dysfunction
(neurologic)Disruption of involuntary nervous system functions causing orthostatic hypotension, gastrointestinal issues, or abnormal sweating.
Frequency: 20-40% of patients
Periorbital Purpura
(dermatologic)Purple bruising around the eyes caused by fragile blood vessels due to amyloid deposition.
Frequency: 15-25% of patients
Macroglossia
(gastrointestinal)Enlarged, thickened tongue with indentations on the sides due to amyloid infiltration.
Frequency: 20-30% of patients
Fatigue and Weakness
(constitutional)Persistent exhaustion and generalized weakness affecting daily activities due to multi-organ involvement.
Frequency: 70-90% of patients
Hepatomegaly
(gastrointestinal)Enlarged liver due to amyloid deposition, often detected on physical examination or imaging.
Frequency: 30-40% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Liver transplantation
Liver transplantation remains the cornerstone treatment for Val30Met and other TTR variants by removing the primary source of abnormal protein production. Early transplantation before advanced neuropathy improves outcomes.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
RNA interference treatment
Patisiran and inotersen represent major therapeutic advances, achieving substantial reduction in TTR production through different molecular mechanisms. These treatments can be used in combination with or as alternatives to transplantation.
Additional treatment options
Diflunisal stabilization therapy
High-dose diflunisal exploits NSAID properties to stabilize TTR tetramers at the dimer-dimer interface. Clinical trials demonstrate slowing of neuropathy progression with this repurposed medication.
medicationNeurological progression assessment
Regular neurological examinations using validated scoring systems track disease progression and treatment response. Autonomic testing including heart rate variability and sweat testing provides complementary data.
monitoringAutonomic symptom management
Lifestyle modifications including increased fluid and salt intake, compression garments, and positional changes help manage orthostatic hypotension. Small frequent meals reduce postprandial symptoms from autonomic neuropathy.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Abeta Amyloidosis Italian Type C3888308?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Revesz T, Holton JL, Lashley T, et al. Genetics and molecular pathogenesis of familial amyloid polyneuropathy and cerebral amyloid angiopathy. Brain Pathology. 2009;19(2):277-286.
Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Advances in Neurology. 1995;66:1-14.
Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Neurology Asia. 2006;11:25-32.
Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013;310(24):2658-2667.
Andersen CB, Stangis M, Zidar J, et al. European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of familial amyloid polyneuropathy. European Journal of Neurology. 2006;13(1):56-62.
Gertz MA, Benson MD, Dyck PJ, et al. Classification and diagnosis of amyloid neuropathy. Neurology. 1995;45(10):1871-1880.
Yin Y, Li G. TTR-FAP gene silencing and tafamidis treatment in familial amyloid polyneuropathy: a meta-analysis. Amyloid. 2020;27(3):189-195.
Hawkins PN, Merlini G, Palladini G. Light chain and transthyretin amyloidosis. Best Practice & Research Clinical Haematology. 2015;28(2-3):159-174.
American Academy of Neurology. Practice parameter: guidelines for the diagnosis of dementia and Alzheimer's disease. Neurology. 2007;69(20):2000-2001.
Matsumura M, Yamashita Y, Ando Y, et al. Consensus and new perspectives on familial amyloid polyneuropathy in Japan. Amyloid. 2019;26(2):70-76.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy