AApoAI amyloidosis
Synonyms: Apolipoprotein A-I amyloidosis | Familial amyloid nephropathy due to apolipoprotein A-I variant | Familial renal amyloidosis due to apolipoprotein A-I variant | Hereditary amyloid nephropathy due to apolipoprotein A-I variant | Hereditary renal amyloidosis due to apolipoprotein A-I variant
A rare hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension proteinuria hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly progressive cardiomyopathy and involvement of skin testes and adrenals (hypergonadotropic hypogonadism) have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
AApoAI amyloidosis?
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Advocacy Organizations
New Zealand Amyloidosis Patients Association
To make a positive and lasting impact in New Zealand, helping Amyloidosis disease patients from various disease subgroups ( AL, AA, hATTR, Wild Type) by working with local and international doctors, pharma treatment entities, as well as government agencies to bring approved funded treatment drugs into NZ for suffering patients. We desire to help build a lasting support system within the NZ health framework. We want an excellent wrap-around network of care to achieve for the sufferer to achieve a positive outcome in their well-being. This mission includes the wellness of the patient's caregiver and family whose needs, we feel, have been neglected.
Amyloidosis Research Consortium
The Amyloidosis Research Consortium (ARC) is a patient-focused nonprofit, harnessing the power of collaboration and innovation to advance science and both improve and extend the lives of those with amyloidosis.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.