Amyloidosis is a rare disease caused by abnormal deposition and accumulation of proteins in the tissues of the body. Amyloid deposits are primarily made up of protein fibers known as amyloid fibrils. These are formed when normally soluble body proteins aggregate and then remain in the tissues instead of safely going away. Progress in research allows us to diagnose and treat amyloidosis at an earlier stage, increasing the chances of success. The complexity of the condition requires the collaboration of a specialist team across different departments.
The Abdali National Amyloidosis Center (ANAC) is a highly specialized clinical service that provides a specialist clinical service for amyloidosis patients throughout Jordan. It is the only specialist amyloidosis center in the country. It has gathered a multidisciplinary team with the right set of capabilities and training to diagnose and treat this condition, improving the chances for patients to improve their quality of life. The ANAC multidisciplinary team includes cardiologists, neurologists, nephrologists, oncologists, pathologists and nuclear imaging radiologists, supported by nurses, technicians, and allied health professionals.
The Abdali Hospital and the Abdali National Amyloidosis Center welcome Jordan and overseas patients. For questions regarding appointments contact our hotline number: +962 6 510 9971 or send an email to [email protected]. Directions are available here.
Types of Amyloidosis
Different types of amyloidosis are named according to the precursor proteins which form the amyloid fibrils.
- ATTR amyloidosis: Transthyretin (TTR), a normal blood protein, present in everybody, is the amyloid precursor protein. TTR amyloidosis is the most common type of amyloidosis accounting for nearly 65% of all amyloidosis cases. ATTR amyloidosis may be hereditary or non-hereditary. Hereditary ATTR amyloidosis is rare in most parts of the world. However, it is common in some geographical locations. The rate of diagnosis of wild type ATTR amyloidosis (non- hereditary) has increased dramatically in the last two decades, representing greater awareness and new diagnostic imaging methods such as cardiac MRI and nuclear imaging.
- AL amyloidosis (formerly known as primary amyloidosis): Light chains (fragments of monoclonal immunoglobulins (antibodies) are the amyloid precursor protein. This is the second commonest type of systemic amyloidosis accounting for 33% of all cases.
- AA amyloidosis (formerly known as secondary amyloidosis)
- Serum amyloid A protein (SAA), a blood protein which is produced in greatly increased amounts when there is prolonged inflammation, is the amyloid precursor protein.
Symptoms
Amyloidosis can affect almost any tissue in the body. Therefore, the symptoms and signs of the disease can vary greatly and are often vague and not specific.
- ATTR amyloidosis symptoms
ATTR amyloidosis mainly affects the heart and the nerves.- Symptoms of heart disease may include shortness of breath, palpitations, leg swelling, weight loss, nausea, fatigue, dizziness, fainting, chest pain and disrupted sleep.
- Symptoms of nervous system disease may include weakness, pain, and loss of sensation in the arms and legs, disturbances of bowel, bladder, blood pressure and sexual function.
- Disease due to amyloid deposits in the eye, kidneys, thyroid gland, adrenal glands and blood vessels.
- AL amyloidosis symptoms
In AL amyloidosis, amyloid deposits may affect any part of the body except for the brain. Usually one or two organs are predominantly affected (known as the “dominant” organs). Patients with AL amyloidosis may complain of general problems such as weight loss, fatigue, weakness, loss of appetite and easy bruising. They may also develop symptoms of disease affecting the kidneys, heart, nervous system, gut, liver, spleen, skin, and joints. Macroglossia (enlarged tongue), bruising of the skin round the eyes (‘racoon eyes’ or ‘panda eyes’) and the shoulder pad sign (swelling of both shoulders) are quite rare, occurring in less than 15% of cases. But when these signs do occur, they are very strongly suggestive of AL amyloidosis
- AA amyloidosis symptoms
AA amyloidosis mainly affects the kidneys and spleen. Protein in the urine is usually the first sign. After that, more serious kidney disease can develop, including nephrotic syndrome, when very large amounts of protein in the urine make it appear frothy, and there is ankle swelling and weight gain. The spleen is often enlarged.
Diagnosis
Doctors may suspect amyloidosis based on patients' symptoms, findings on physical examination and sometimes family history. The diagnosis can be confirmed (or eliminated) by tests including:
- Tissue biopsy
- Genetic testing
- Imaging studies
Each type of amyloidosis requires specific tests and combinations.
At Abdali Hospital we conduct an initial clinical evaluation that includes:
- Blood and urine tests
- ECG and echocardiogram (ultrasound scan of the heart)
- Additional tests in some patients may include:
- Abdominal fat biopsy
- Bone marrow biopsy
- PYP scan of the heart
- Cardiac MRI
- Physician evaluation
- Specialist nurse consultation
The evaluation typically takes 1 -2 days, and hospital or hotel overnight accommodation can be arranged when necessary. We recommend that you bring a family member or friend with you if possible. There is a lot of information to take in and it will help to have someone with you to support you and help you.
The physician who evaluates you will explain your diagnosis and make recommendations regarding a suitable treatment plan. The specialist nurses explain and discuss practical nursing issues during the initial evaluation and are available afterwards for patients and relatives to contact with any questions that arise. Our approach to each patient with amyloidosis is tailored individually to the type of amyloid and to patients’ problems. Wherever possible, patients are discussed with the referring physician.
Treatment of amyloidosis
Treatment of all types of amyloidosis is currently based on the following principles:
- Reducing the supply of amyloid forming precursor proteins.
- Supporting the function of organs containing amyloid: In all types of amyloidosis, it is important that treatment should support the function of organs containing amyloid. In ATTR amyloidosis this may include:
- Treatment for heart disease
- Heart transplantation
- Treatment of peripheral neuropathy symptoms
- Treatment of autonomic neuropathy symptoms
- Liver transplantation as a treatment for hereditary ATTR amyloidosis - reducing the supply of amyloid precursor proteins
- AL Amyloidosis treatment includes chemotherapy
An important principle of treatment for cardiac amyloidosis is strict fluid balance control. Fluid excess can be avoided by careful attention to the 3 Ds: diet, diuretics and daily weights.
Frequently asked questions
Click here to find out the answers to the most frequently asked questions.
