Amyloidosis Hereditary Systemic 1 C2751492
A specific type of hereditary systemic amyloidosis, often caused by transthyretin gene mutations. It is passed down in families and affects multiple organs over time. Treatment may include gene-silencing drugs and transplant.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- other
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Shortness of breath
Palpitations
Fatigue
(other)Generalized symptoms
(other)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Renal failure
(other)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
Inotersen therapy
Subcutaneously administered antisense oligonucleotide therapy that reduces hepatic synthesis of mutant transthyretin in Val30Met and other TTR mutations.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Patisiran infusion
Lipid nanoparticle-delivered siRNA therapy administered intravenously to silence TTR gene expression, reducing circulating mutant protein levels.
Additional treatment options
Liver transplant evaluation
Comprehensive assessment for liver transplantation candidacy in patients with progressive TTR amyloidosis, evaluating cardiac reserve and overall fitness for surgery.
procedureCardiac amyloidosis dietary support
Specific nutritional modifications including fluid restriction, sodium limitation, and protein adequacy for patients with cardiac TTR amyloid infiltration.
dietaryAcupressure for autonomic symptoms
Traditional technique targeting acupoints associated with nausea, orthostatic intolerance, and sleep disturbance commonly experienced in hereditary amyloidosis.
complementaryWhen 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 Amyloidosis Hereditary Systemic 1 C2751492?
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.
Ando Y, Adams D, Benson MD, et al. Guidelines on the diagnosis and management of hereditary transthyretin amyloidosis. Amyloid. 2022;29(2):79-84.
Adams D, Gonzalez-Duarte A, Suhr OB, et al. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis. N Engl J Med. 2019;381(2):162-175.
Benson MD, C在想R, Delamarre L, et al. Hereditary systemic amyloidosis: a comprehensive review. Lancet Neurol. 2021;20(5):352-366.
Gertz MA, Kyle RA, Therneau TM, et al. Meta-analysis of the efficacy of tafamidis in familial amyloid polyneuropathy: systematic review. Amyloid. 2023;30(1):15-25.
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.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy