Amyloidosis is a group of diseases in which abnormally folded proteins deposit in organs as stiff fibrils. The kidney is one of the organs most often affected. Deposits in the filtering units make them leak large amounts of protein and gradually reduce kidney function.
The two types most relevant to the kidney are AL amyloidosis, caused by a bone marrow plasma cell clone producing light chains, and AA amyloidosis, which follows years of chronic inflammation. In Türkiye and the eastern Mediterranean, familial Mediterranean fever is a well-known cause of AA amyloidosis.
Symptoms
- Swollen ankles, legs or eyelids from protein loss
- Foamy urine
- Tiredness and weight loss
- Low blood pressure or dizziness on standing
- Breathlessness if the heart is also involved
- Numbness in hands and feet, easy bruising or an enlarged tongue in AL type
- Rising creatinine on blood tests
Causes and risk factors
In AL amyloidosis a small clone of plasma cells in the bone marrow produces light chains that misfold; it is related to, but distinct from, myeloma. AA amyloidosis results from long-standing inflammation that keeps serum amyloid A protein high: rheumatoid arthritis, inflammatory bowel disease, chronic infections such as bronchiectasis or tuberculosis, and untreated familial Mediterranean fever. Rarer hereditary forms involve mutated proteins such as fibrinogen or transthyretin. The type must be identified because treatments differ completely.
How it is diagnosed
- Urine protein and kidney function: Quantify the protein leak, often in the nephrotic range, and the filtration rate.
- Serum free light chains and immunofixation: Look for the plasma cell clone behind AL amyloidosis.
- Tissue biopsy with Congo red staining: Kidney, abdominal fat or bone marrow biopsy confirms amyloid; typing is done by immunohistochemistry or mass spectrometry.
- Heart assessment: Echocardiogram, cardiac MRI, troponin and NT-proBNP, since heart involvement determines outlook and treatment intensity.
- Genetic testing: MEFV gene testing for familial Mediterranean fever or for hereditary amyloid types where suspected.
Treatment options
- Chemotherapy-type regimens for AL: Combinations based on bortezomib and daratumumab aim to switch off light chain production; selected fit patients may have an autologous stem cell transplant. Managed by haematologists.
- Controlling inflammation in AA: Colchicine for life in familial Mediterranean fever, and biologics such as interleukin-1 or interleukin-6 blockers when needed.
- Supportive kidney care: Salt restriction, diuretics for swelling, careful blood pressure management and avoiding kidney-toxic drugs.
- Dialysis: If the kidneys fail, haemodialysis or peritoneal dialysis can be used as in other kidney diseases.
- Kidney transplantation: Possible in selected people once the underlying disease is in sustained remission or controlled.
When it is urgent
Seek emergency care locally for sudden breathlessness, fainting, chest pain, a swollen painful leg (clots are more common with heavy protein loss), very low urine output or rapidly worsening swelling.
Travelling to Türkiye for treatment
Amyloidosis needs months of coordinated treatment by haematology, nephrology and often cardiology, which is best delivered close to home. A visit can reasonably provide a specialist second opinion, a kidney biopsy with proper amyloid typing, or genetic testing for familial Mediterranean fever, for which Turkish centres have wide experience. Plan continuing care with your own doctors before you travel.
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 amyloidosis a cancer?
AL amyloidosis comes from an abnormal plasma cell clone and is treated with drugs used for myeloma, but the clone is usually small. AA and hereditary types are not cancers.
Can the kidney damage reverse?
If the supply of amyloid protein is switched off, protein leak often falls slowly over 6 to 12 months or longer. Established scarring does not recover, so early diagnosis matters.
Does colchicine really prevent it?
In familial Mediterranean fever, taking colchicine every day prevents amyloidosis in the great majority of people. Stopping it is the main risk.