Cardiac amyloidosis is a condition in which misfolded proteins, called amyloid, build up between the heart muscle cells. The walls become thick and stiff, the heart cannot relax and fill properly, and heart failure and rhythm problems follow.
Two types account for nearly all cases. AL amyloidosis comes from abnormal light chains produced by a bone marrow disorder and is treated by haematologists, often urgently. ATTR amyloidosis comes from transthyretin, a liver protein, either through ageing (wild-type) or an inherited gene variant. ATTR is far more common than once thought in older people with heart failure.
Symptoms
- Breathlessness on exertion and swollen ankles or abdomen
- Fatigue and poor exercise tolerance
- Dizziness on standing, or blood pressure tablets that are no longer tolerated
- Palpitations from atrial fibrillation, or fainting from heart block
- Carpal tunnel syndrome in both hands, spinal stenosis or a ruptured biceps tendon years earlier (ATTR)
- Numbness or burning in the feet, or bowel and bladder disturbance from nerve involvement
- Easy bruising around the eyes or an enlarged tongue (AL)
Causes and risk factors
In AL amyloidosis a clone of plasma cells in the bone marrow makes excess free light chains that misfold and deposit in the heart, kidneys, nerves and liver. In wild-type ATTR, normal transthyretin becomes unstable with age, mainly in men over 65 to 70. In hereditary ATTR a variant in the TTR gene, passed on in an autosomal dominant pattern, makes the protein unstable earlier; some variants are more frequent in people of West African, Portuguese, Irish or Swedish ancestry.
How it is diagnosed
- ECG and echocardiography: Thick walls with oddly low ECG voltages; strain imaging shows a typical pattern sparing the apex.
- Cardiac MRI: Characteristic late gadolinium enhancement and raised extracellular volume.
- Blood and urine tests for light chains: Serum free light chains and immunofixation. Essential in every patient to detect or exclude AL.
- Bone scintigraphy (PYP, DPD or HMDP): Strong heart uptake with no abnormal light chains diagnoses ATTR without a biopsy.
- Tissue biopsy: Fat, bone marrow or heart biopsy with amyloid typing when AL is suspected or tests conflict.
- TTR gene test: Separates hereditary from wild-type ATTR and guides family screening.
Treatment options
- Transthyretin stabilisers: Tafamidis, and acoramidis where available, slow progression of ATTR cardiomyopathy and reduce hospital admissions. They work best when started early.
- Gene silencers: Patisiran, vutrisiran, inotersen or eplontersen reduce transthyretin production; established for hereditary ATTR with nerve involvement, with growing evidence in cardiomyopathy.
- Chemotherapy for AL: Daratumumab-based combinations with bortezomib, and stem cell transplant in selected patients, directed by haematology.
- Heart failure care: Careful diuretics are the mainstay. Beta blockers, ACE inhibitors and digoxin are often poorly tolerated.
- Rhythm management: Anticoagulation for atrial fibrillation regardless of risk score; pacemaker for conduction disease.
- Heart transplant: Considered for a small number of selected patients.
When it is urgent
Seek emergency care locally for fainting, severe breathlessness at rest or when lying flat, chest pain, or a rapid irregular heartbeat with dizziness. Suspected AL amyloidosis with heart involvement needs haematology assessment within days, not weeks, and should not wait for a trip.
Travelling to Türkiye for treatment
A visit can deliver a full diagnostic work-up in 3 to 5 days: echo with strain, MRI, light chain tests, bone scintigraphy and genetic testing, plus a specialist opinion. The treatments themselves are long-term medicines that are expensive and have to be prescribed, funded and monitored in your home country, and AL chemotherapy requires months of local care.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
الأسئلة المتكررة
Is it curable?
Not at present. Existing deposits clear slowly if at all. Current drugs stop or slow new deposition, which is why early diagnosis matters.
Should my family be tested?
Only if you have hereditary ATTR. First-degree relatives can then be offered genetic counselling and testing.
Why was this missed for years?
It mimics common heart failure from high blood pressure. Clues such as carpal tunnel syndrome, thick walls with low ECG voltage and intolerance of standard medicines are easy to overlook.