Wild type ATTR amyloidosis

What it is

From: Orphanet

A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).

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.

Abnormal EKG · Very frequent (99-80%)

Abnormal rhythm of the heart.

Abnormal pulmonary interstitial morphology · Very frequent (99-80%)

Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.

Congestive heart failure · Very frequent (99-80%)

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.

Left ventricular hypertrophy · Very frequent (99-80%)

Enlargement or increased size of the heart left ventricle.

Myocardial late gadolinium enhancement · Very frequent (99-80%)

Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.

Pedal edema · Very frequent (99-80%)

An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.

Pleural effusion · Very frequent (99-80%)

The presence of an excessive amount of fluid in the pleural cavity.

Pulmonary edema · Very frequent (99-80%)

Fluid accumulation in the lungs.

Transthyretin cardiac amyloidosis · Very frequent (99-80%)

A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.

Abnormal autonomic nervous system physiology · Frequent (79-30%)

A functional abnormality of the autonomic nervous system.

Arrhythmia · Frequent (79-30%)

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.

Atrial fibrillation · Frequent (79-30%)

An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.

Autonomic bladder dysfunction · Frequent (79-30%)

Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.

Bowel incontinence · Frequent (79-30%)

Involuntary fecal soiling in adults and children who have usually already been toilet trained.

Other findings in the same source

From: Orphanet

Additional reported features include Chronic diarrhea (Frequent (79-30%)); Constrictive median neuropathy (Frequent (79-30%)); Decreased QRS voltage (Frequent (79-30%)); Elevated circulating alkaline phosphatase concentration (Frequent (79-30%)); Gastrointestinal dysmotility (Frequent (79-30%)); Hepatomegaly (Frequent (79-30%)); Impaired vibratory sensation (Frequent (79-30%)); Increased circulating NT-proBNP concentration (Frequent (79-30%)); Increased circulating troponin I concentration (Frequent (79-30%)); Increased circulating troponin T concentration (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adult; Elderly

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: 1-5 / 10 000; Worldwide; Value and class.

Which doctor should you see?

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

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 Wild type ATTR 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.