 "Amyloidosis disease: Understanding the diagnosis, symptoms and treatments")
Amyloidosis is a rare disease that occurs when a protein called amyloid builds up in organs. The protein synthesis in this disease is abnormal. The amyloids can lead to the malfunction of organs. The organs that may be affected due to amyloidosis include the heart, kidneys, liver, spleen, nervous system, and digestive tract.
Many different types of proteins can lead to amyloid deposits, but only a few of them can cause major health problems. While amyloid refers to an abnormal protein build-up around organs, the reason for it is still not found. The two most common types of amyloidosis are light-chain amyloid disease and wild-type ATTR amyloidosis (ATTR). Of these, the light chain is the most diagnosed type, especially in the field of cardiology. ATTR is genetic but only witnessed in countries such as Portugal and Spain, where certain communities carry genes of amyloid.
In February this year, former Pakistan President Pervez Musharraf died due to amyloidosis, which made headlines across the globe. As per reports, Google searches peaked with this rare disease as people did not quite understand what it was.
First centre in India
In May this year, India's first amyloidosis centre was set up in Kerala at the Amrita Hospital.
The centre is aimed at evaluating and treating patients suspected of amyloidosis to diagnose different kinds of variants such as AL, ATTR, and AA, among others.
Dr Hisham Ahamed, department of cardiology, Amrita Hospital, Kochi said that as amyloidosis is a multisystemic disease, patients often fail to get the right diagnosis at the right time. He said that the "major advantage of having a focused and dedicated advanced amyloid center of excellence is to have all of the expertise under one cohesive service".
The patients, he said, can now be treated in a comprehensive way, similar to the dedicated amyloid centres in Europe and US.
The symptoms
Amyloid proteins deposit mostly inside the knee, followed by the hands, wrists, elbow, hip, and ankle.
The symptoms include severe fatigue, breathlessness, excess protein leak in the urine, sudden weight loss, change in skin colour, joint pain, swelling of the tongue, burning sensation in hands and feet, severe weakness, and weak hand grip. The kidney and heart are the most common organs involved.
Amyloid deposition in the kidney can affect its ability to filter and excrete waste. This can lead to high levels of protein in the urine. Accumulation of amyloid proteins in the gastrointestinal system may cause weight loss, diarrhea, abdominal pain, and heartburn (gastrointestinal reflux). A rare development is amyloid purpura, which includes bleeding with bruising around the eyes.
The diagnosis
The diagnosis of amyloidosis disease may be suspected when amyloid protein is found in urine, or when peripheral nerves do not function properly. The doctor may conduct tissue biopsy, blood and urine tests, and imaging tests such as ultrasound, echocardiogram, electrocardiogram, MRI, and CT scan.
The treatment
The treatment for amyloidosis is dealt with by a huge team of doctors as it affects various organs of the body. The term is termed as a multidisciplinary team, which includes a haematologist (who specialises in blood disorders), a cardiologist, a gastroenterologist, a pulmonologist, a nephrologist, and a neurologist.
The treatment for amyloidosis depends on the type of the protein. The first method is performing a stem cell transplant, but only 20 to 25 per cent of people are eligible for this type of transplant. The second treatment is chemotherapy and immunotherapy. It can also be treated through targeted therapies such as anti-angiogenesis therapy, monoclonal antibodies, and proteasome inhibitors. The third method is through using a pacemaker.
Treatment with high-dose melphalan, a chemotherapy agent, followed by stem cell transplantation has shown promise in early studies and is recommended for stage I and II AL amyloidosis.
However, a complete recovery from amyloidosis is not always possible. If the disease cannot be cured or controlled, it may be called advanced or terminal. A patient who has advanced disease can only live for less than six months.
For cardiac amyloidosis, there is no cure yet. It is more common in men than in women and it affects older people.