Renal amyloidosis (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview[edit | edit source]

The hallmark symptoms of renal amyloidosis is proteinuria and hematuria. Other symptoms include edema, numbness or tingling in hands or feet. Common symptoms of renal amyloidosis include swelling of ankles and legs, severe fatigue, weakness, shortness of breath, diarrhea with blood, constipation, unintentional and significant weight loss. The exact cause of renal amyloidiosis has not been identified. Most commonly causes of majority of the cases in renal amyloidosis idiopathic. Other causes include amyloidosis secondary to diseases such as tuberculosis, familial Mediterranean fever, rheumatoid arthritis, multiple myeloma or amyloidic mutations of transthyretin and fibrinogen protein. Common risk factors in the development of renal amyloidosis include genetic mutations such as heterozygous mutations in the genes for lysozyme, apolipoprotein AI, apolipoprotein AII, or fibrinogen A alpha-chain. Renal biopsy is the gold standard test for the diagnosis of renal amyloidosis. There are no established measures for the primary prevention of renal amyloidosis.

What are the Symptoms of renal amyloidosis?[edit | edit source]

Following are the causes of renal amyloidosis:

Common Symptoms[edit | edit source]

Common symptoms of renal amyloidosis include:

• Swelling of ankles and legs
• Severe fatigue
• Weakness
• Shortness of breath
• Diarrhea with blood
• Constipation
• Unintentional, significant weight loss

Less Common Symptoms[edit | edit source]

Less common symptoms of [disease name] include

• Numbness or tingling in hands or feet (carpal tunnel syndrome)

What Causes renal amyloidosis?[edit | edit source]

Following are the causes of renal amyloidosis:

Common Causes[edit | edit source]

In renal amyloidosis, most common causes include:

• Idiopathic ( Primary (AL) amyloidosis )
• Amyloidosis secondary to:
  • TB
  • Familial mediterranean fever (FMF)
  • Rheumatoid arthritis (RA)
  • Multiple myeloma

Less Common Causes[edit | edit source]

In renal amyloidosis, less common causes include:

• .Hereditary amyloidosis due to amyloidogenic mutations:
  • Transthyretin (TTR) (most common inherited mutation)
  • Fibrinogen
  • Apolipoprotein A1
  • Apolipoprotein A2
  • Lysozyme
  • Gelsolin genes

Who is at Highest Risk?[edit | edit source]

The most potent risk factor in the development of renal amyloidosis are genetic mutations which include:

• SAA1 gene mutaions
• Point mutations in the apoAI gene
• Point mutations in the apoAII gene
• Heterozygous mutations in the genes for lysozyme, apolipoprotein AI, apolipoprotein AII,, or fibrinogen A alpha-chain

Diagnosis[edit | edit source]

Renal biopsy is the gold standard test for the diagnosis of renal amyloidosis

When to Seek Urgent Medical Care?[edit | edit source]

Call your health care provider if you develop symptoms of renal amyloidosis.

Treatment Options[edit | edit source]

The cause of autoimmune disease is not clear, there is no way to prevent renal amyloidosis. However, some pharmacologic medical therapies for renal amyloidosis include:

• Colchicine
• Azathioprine
• Dimethylsulfoxide
• Chlorambucil
• Methotrexate
• Cyclophosphamide
• TNF-alpha antagonists (ie, etanercept, infliximab, and adalimumab)

• Proline for clearing amyloid

Where to find Medical Care for renal amyloidosis?[edit | edit source]

Medical care for renal amyloidosis can be found here.

Prevention[edit | edit source]

There are no established measures for the primary prevention of renal amyloidosis

What to Expect (Outlook/Prognosis)?[edit | edit source]

After a few years, renal amyloidosis eventually leads to end stage renal disease. Disease progression is worsened in presence of certain factors such as:

• Steroid administration
• Renal vein thrombosis
• Infections
• Surgery

Possible Complications[edit | edit source]

Common complications of renal amyloidosis include:

• ESRD
• Systemic organ involvement

Sources[edit | edit source]

https://www.niddk.nih.gov/health-information/kidney-disease/amyloidosis

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