Medication Summary

The aims of current medical therapy are to support compromised organ function and to ameliorate symptoms.

Patients are at increased risk of hemorrhage because of increased vascular fragility and/or substantial gastrointestinal amyloid deposits. Unless overwhelming indications for anticoagulation therapy are present, it is best avoided.

No existing treatment specifically results in mobilization and regression of amyloid deposits, but novel drug compounds that inhibit the formation, persistence, and/or effects of amyloid deposits are presently in development.

Class Summary

Hypertension is common and can accelerate the decline in renal function. Maintain blood pressure within the lower end of normal range.

Ramipril (Altace)

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Prevents conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, resulting in increased levels of plasma renin and a reduction in aldosterone secretion.

Class Summary

Often help treat symptomatic peripheral edema resulting from nephrotic syndrome.

Furosemide (Lasix)

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Increases excretion of water by interfering with chloride-binding cotransport system, which, in turn, inhibits sodium and chloride reabsorption in ascending loop of Henle and distal renal tubule. Dose must be individualized to patient. Depending on response, administer at increments of 20-40 mg, no sooner than 6-8 h after previous dose, until desired diuresis occurs.

Class Summary

Acute GI bleeding or perforation is the cause of death in a large proportion of patients with lysozyme amyloidosis, and long-term prophylactic treatment with a proton pump inhibitor is advisable.

Omeprazole (Prilosec)

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Decreases gastric acid secretion by inhibiting the parietal cell H⁺/K⁺ -ATP pump.

Class Summary

Reversible competitive blockers of histamine at the H2 receptors, particularly those in the gastric parietal cells, where they inhibit acid secretion. The H2 antagonists are highly selective, do not affect the H1 receptors, and are not anticholinergic agents.

Ranitidine (Zantac)

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Inhibits histamine stimulation of the H2 receptor in gastric parietal cells, which, in turn, reduces gastric acid secretion, gastric volume, and hydrogen concentrations.

Cimetidine (Tagamet)

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Inhibits histamine at H2 receptors of gastric parietal cells, which results in reduced gastric acid secretion, gastric volume, and hydrogen concentrations.

Class Summary

Gastric emptying may be delayed, and some patients respond quite well to prokinetic agents or antiemetics.

Metoclopramide (Reglan)

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A dopamine antagonist that stimulates gastric emptying and small intestinal transit.

Questions

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Media Gallery

Familial renal amyloidosis. Proposed mechanism for amyloid fibril formation. The drawing depicts a generic amyloid fibril precursor protein (1) in equilibrium with a partially unfolded, molten, globulelike form of the protein (2) and its completely denatured state (3). Autoaggregation through the beta domains initiates fibril formation (4), providing a template for ongoing deposition of precursor proteins and for the development of the stable, mainly beta-sheet, core structure of the fibril (5). The amyloidogenic precursor proteins in patients with familial renal amyloidosis are thought to be less stable than their wild-type counterparts, causing them to populate intermediate, molten, globulelike states more readily.
Familial renal amyloidosis. An extended kindred with hereditary amyloidosis associated with fibrinogen A alpha-chain Glu526Val; disease penetrance is high in this particular family.
Familial renal amyloidosis. Partial DNA sequence of the gene associated with fibrinogen A alpha-chain Glu526Val in a patient with familial renal amyloidosis, and a sequence from a healthy control. The mutation, which alters codon 526 from glutamic acid to valine, is marked with an arrow.
Familial renal amyloidosis. Progression of amyloid deposits in a patient with amyloidosis associated with fibrinogen A alpha-chain Glu526Val. These serial posterior, whole-body, scintigraphic images were obtained following intravenous injection of iodine-123 (123I)–labeled human serum amyloid P component into a 48-year-old man with hereditary amyloidosis associated with fibrinogen A alpha-chain Glu526Val in whom asymptomatic proteinuria had been identified. Both parents were alive and well and older than age 80 years. The scan at diagnosis (left) showed modest abnormal uptake into renal amyloid deposits, which increased at follow-up 3 years later (right). The remainder of the image represents a normal distribution of tracer throughout the blood pool.
Familial renal amyloidosis. Regression of amyloidosis associated with fibrinogen A alpha-chain Glu526Val following hepatorenal transplantation. The pictures are serial anterior, whole-body, scintigraphic images obtained following intravenous injection of iodine-123 (123I)–labeled human serum amyloid P component into a patient with amyloidosis associated with fibrinogen A alpha-chain Glu526Val. Prior to hepatorenal transplantation (left), heavy amyloid deposition was present in an enlarged liver and spleen. No amyloid deposits were identified in a follow-up study obtained 42 months after hepatorenal transplantation (right); only a normal distribution of tracer is present throughout the blood pool.
Familial renal amyloidosis. Regression of amyloidosis associated with apolipoprotein AI Gly26Arg following hepatorenal transplantation. These serial anterior, whole-body, scintigraphic images were obtained following intravenous injection of iodine-123 (123I)–labeled human serum amyloid P component into a patient with hereditary amyloidosis associated with apolipoprotein AI Gly26Arg. Prior to hepatorenal transplantation (left), heavy amyloid deposition was present in the liver, obscuring the kidneys. Two years after combined hepatorenal transplantation (right), a follow-up scan was normal, showing tracer distributed evenly throughout the background blood pool, including the transplanted organs. Splenic amyloid deposits that were evident initially in posterior scans had regressed at follow-up.

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Table. Recognized Genotypes and Their Associated Phenotypes in Familial Renal Amyloidosis

Table. Recognized Genotypes and Their Associated Phenotypes in Familial Renal Amyloidosis

Amyloid Fibril Precursor Protein	Organs/Tissues Predominantly Affected by Amyloid and Common Clinical Features	Ethnic Origin of Affected Kindreds
Lysozyme Ile56Thr	Renal - Proteinuria and kidney failure Skin - Petechial rashes Liver and spleen - Organomegaly (usually well-preserved function)	2 British families (possibly related)
Lysozyme Asp67His	Renal - Proteinuria and kidney failure GI tract - Bleeding and perforation Liver and spleen - Organomegaly and hepatic hemorrhage Salivary glands – Sicca syndrome	Single British family
Lysozyme Try64Arg	Renal - Proteinuria and kidney failure GI tract - Bleeding and perforation Salivary glands – Sicca syndrome	Single French family
Lysozyme Trp82Arg	Renal - Proteinuria and kidney failure	Single Chinese family
Apolipoprotein AI wild type	Amyloid deposits in aortic atherosclerotic plaques	20-30% of elderly individuals at autopsy
Apolipoprotein AI Gly26Arg	Renal - Proteinuria and kidney failure Gastric mucosa - Peptic ulcers Peripheral nerves - Progressive neuropathy Liver and spleen - Organomegaly (usually well-preserved function)	Multiple families (mostly of northern European extraction)
Apolipoprotein AI Trp50Arg	Renal - Proteinuria and kidney failure Liver and spleen - Organomegaly and liver failure	Single Ashkenazi family
Apolipoprotein AI Leu60Arg	Renal - Proteinuria and kidney failure Liver and spleen - Organomegaly (usually well-preserved function) Cardiac (rarely) - Heart failure	British and Irish kindreds
Apolipoprotein AI deletion 60-71 insertion 60-61	Liver - Liver failure	Single Spanish family
Apolipoprotein AI Leu64Pro	Renal - Proteinuria and kidney failure Liver and spleen - Organomegaly	Single Canadian-Italian family
Apolipoprotein AI deletion 70-72	Renal - Proteinuria and kidney failure Liver and spleen - Organomegaly (usually well-preserved function) Retina - Central scotoma	Single family of British origin
Apolipoprotein AI Leu75Pro	Renal - Proteinuria and kidney failure Liver and spleen - Organomegaly	Italy – Variable penetrance
Apolipoprotein AI Leu90Pro	Cardiac - Heart failure Larynx - Dysphonia Skin – Infiltrated yellowish plaques	Single French family
Apolipoprotein AI deletion Lys107	Aortic intima - Aggressive early-onset ischemic heart disease	Single Swedish patient at autopsy
Apolipoprotein AI Arg173Pro	Cardiac - Heart failure Larynx - Dysphonia Skin - Acanthosis nigricans–like plaques	British and American families
Apolipoprotein AI Leu174Ser	Cardiac - Heart failure	Single Italian family
Apolipoprotein AI Ala175Pro	Larynx - Dysphonia Testicular - Infertility	Single British family
Apolipoprotein AILeu178His	Cardiac - Heart failure Larynx – Dysphonia Skin - Infiltrated plaques Peripheral nerves – Neuropathy	Single French family
Apolipoprotein AII Stop78Gly	Renal - Proteinuria and kidney failure	American family
Apolipoprotein AIIStop78Ser	Renal - Proteinuria and kidney failure	American family
Apolipoprotein AIIStop78Arg	Renal - Proteinuria and kidney failure	Russian family, Spanish family (different nucleotide substitutions in the two kindreds)
Fibrinogen A alpha-chain Arg554Leu	Renal - Proteinuria and kidney failure	Peruvian, African American and French families
Fibrinogen A alpha-chain frame shift at codon 522	Renal - Proteinuria and kidney failure	Single French family
Fibrinogen A alpha-chain frame shift at codon 524	Renal - Proteinuria and kidney failure	Single American family
Fibrinogen A alpha-chain Glu526Val	Renal - Proteinuria and kidney failure Late-onset liver (rarely) - Organomegaly and liver failure	Multiple families (northern European extraction, variable penetrance)
Fibrinogen A alpha-chain Gly540Val	Renal - Proteinuria and kidney failure	Single German family
Fibrinogen A alpha-chain Indel 517-522	Renal - Proteinuria and kidney failure	Single Korean child

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Familial Renal Amyloidosis Medication

Medication Summary

Antihypertensive agents