AA amyloidosis

What it is

From: Orphanet

A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Amyloidosis · Very frequent (99-80%)

Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence.

Hypotension · Very frequent (99-80%)

Low Blood Pressure, vascular hypotension.

Nephropathy · Very frequent (99-80%)

A nonspecific term referring to disease or damage of the kidneys.

Proteinuria · Very frequent (99-80%)

Increased levels of protein in the urine.

Renal amyloidosis · Very frequent (99-80%)

A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).

Abdominal pain · Frequent (79-30%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Abnormal oral mucosa morphology · Frequent (79-30%)

Abnormality of the oral mucosa.

Cholestasis · Frequent (79-30%)

Impairment of bile flow due to obstruction in bile ducts.

Chronic diarrhea · Frequent (79-30%)

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.

Chronic kidney disease · Frequent (79-30%)

Functional anomaly of the kidney persisting for at least three months.

Enlarged kidney · Frequent (79-30%)

An abnormal increase in the size of the kidney.

Hepatomegaly · Frequent (79-30%)

Abnormally increased size of the liver.

Malabsorption · Frequent (79-30%)

Impaired ability to absorb one or more nutrients from the intestine.

Malnutrition · Frequent (79-30%)

A deficiency in the intake of energy and nutrients.

Other findings in the same source

From: Orphanet

Additional reported features include Nausea (Frequent (79-30%)); Nephrotic syndrome (Frequent (79-30%)); Venous thrombosis (Frequent (79-30%)); Vomiting (Frequent (79-30%)); Abnormal left ventricular function (Occasional (29-5%)); Acute kidney injury (Occasional (29-5%)); Constrictive median neuropathy (Occasional (29-5%)); Decreased QRS voltage (Occasional (29-5%)); Goiter (Occasional (29-5%)); Jaw claudication (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult; Childhood

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing AA amyloidosis is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for AA amyloidosis. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.