Familial Renal Amyloidosis Follow-up

Updated: Nov 21, 2018
  • Author: Helen J Lachmann, MD, MRCP; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Follow-up

Further Outpatient Care

Ensure regular follow-up care with scrupulous attention to control of blood pressure.

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Deterrence/Prevention

Genetic screening is possible for family members. Adequate counseling is a necessity because the age of onset and penetrance are highly variable and no specific treatment is available.

Prenatal diagnosis is technically possible but is of uncertain value because many individuals with these particular gene mutations have a normal life expectancy.

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Complications

Acute kidney injury and chronic kidney disease can occur in the following forms of familial renal amyloidosis (FRA):

  • FRA due to variant lysozyme

  • FRA due to variant apolipoprotein AI

  • FRA due to variant apolipoprotein AII

  • FRA due to variant fibrinogen A alpha-chain

Acute and chronic liver failure can occur in the following forms of FRA:

  • FRA due to variant apolipoprotein AI
  • Potentially FRA due to variant lysozyme and fibrinogen A alpha-chain (very rarely)

The following complications can occur in these forms of FRA:

  • Restrictive cardiomyopathy - Some apolipoprotein AI and AII variants

  • GI hemorrhage/perforation - Lysozyme FRA

  • Progressive neuropathy - Some patients with apolipoprotein AI Gly26Arg and Leu178His

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Prognosis

Many patients with FRA survive until the seventh decade or older, and most patients survive for at least 10 years after diagnosis. Life expectancy has increased substantially since kidney and liver transplantations have been introduced as treatments for these diseases. Liver transplantation is potentially curative in patients with fibrinogen A alpha-chain FRA and, possibly, in some patients with apolipoprotein AI amyloidosis.

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Patient Education

Patient education should include the following:

  • Patients should be advised to avoid any potential systemic insults such as dehydration, nephrotoxic drugs, and avoidable general anesthetics or surgery.

  • Patients should not only be aware that first-degree relatives each have a 50% chance of carrying the gene but also that disease penetrance is highly variable.

  • For further information, see Mayo Clinic - Kidney Transplant Information.

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