New Delhi: Pervez Musharraf, the former President of Pakistan died on Sunday after battling a prolonged illness with ‘amyloidosis’ in Dubai. The demise of the four-star general, living in exile, has brought the world’s attention towards the rare disease. Amyloidosis is a life-threatening condition that Musharraf has been suffering from since 2018. Musharraf was hospitalised in June last year. As per media reports, he was going through a difficult stage of the disease where recovery seemed impossible and organs were not functioning properly. Amyloidosis is a rare disease that affects nearly 4,000 people in the US every year. The National Institutes of Health classify it as a rare disease since it affects less than 2,000 persons in the US, according to a National Centre for Biotechnology information paper. ETHealthworld addresses some of the most frequently asked questions on the internet about what amyloidosis is and whether or not it can be treated.
What is amyloidosis?
Amyloidosis is a condition that hampers the day-to-day functioning of the human body with the formation and thereafter proliferation, of an abnormal, insoluble protein called amyloid in organs and tissues throughout the body, as a result of which the organs do not function properly. These organs include the liver, kidneys, spleen, heart, nervous system, and digestive tract. With the progression of the disease in later stages, the chances of organ failure increase. According to John Hopkins Medicine, men make up over 70 per cent of those with amyloidosis.
How are the possible symptoms diagnosed?
The disease doesn’t show any early signs and symptoms and, as per experts, can lead to a slow death. It is difficult to determine and distinguish as to which set of organs are impacted the most. Patients already at the receiving end of long-term kidney dialysis are at risk for developing a type of amyloidosis. John Hopkins Medicine advises a diagnostic procedure that includes a urine test and a blood test, which may be followed by one or more imaging procedures, including echocardiography, nuclear heart test, or liver ultrasound, to look at the body’s internal organs. Some of the symptoms of the disease include severe fatigue and weakness, shortness of breath, dietary changes, numbness, swelling of the ankles and legs, an enlarged tongue, and the formation of purple patches around the eyes.
How does amyloidosis affect the organs and what complications can it cause?
The capacity of the heart to fill with blood in between heartbeats is decreased by amyloid. With each heartbeat, less blood is pumped. Breathing difficulty may result from this. Amyloidosis can lead to issues with heart rhythm if it interferes with the electrical system of the heart. Heart issues caused by amyloid can be fatal. If the nervous system is harmed, nerve damage can occur, resulting in pain, numbness, or tingling in the fingers and feet. Nerve damage can also cause periods of alternating constipation and diarrhoea.
The kidneys’ filtering system may also be harmed by amyloid. Their capacity to eliminate waste from the body is impacted by this. Kidney failure may eventually result from it. An anomaly in the bone marrow cells may contribute to amyloidosis. Light-chain proteins made by the aberrant plasma cells have faulty versions that can enter the bloodstream and create amyloid plaques.
Who is most vulnerable?
According to the Mayo Clinic, people diagnosed with amyloidosis are mostly aged between 60-70, which, in other words, means that old people are most susceptible to this disease. Patients already suffering from a chronic infectious or inflammatory disease such as rheumatoid arthritis (RA) or inflammatory bowel disease (IBS) have higher chances of amyloidosis development alongside the existing condition.
People with a family history can develop familial amyloidosis. The kidneys, heart, and nerves are frequently impacted by this genetic illness. It often occurs when a protein is produced abnormally by the liver. It can be a primary or secondary health problem and can result from a gene mutation. Its causes may occasionally be a mystery. A genetic mutation linked to a kind of amyloidosis that can affect the heart appears to be more common among people of African heritage.
What is the life expectancy and survival rate?
Although amyloidosis is an incurable disease, there are several tried and tested treatment methods available to stop the disease from spreading to other parts of the body by reducing the supply of new proteins produced and allowing the body time to clear the deposits on the organs. Chemotherapy is one of the amyloidosis treatments. Chemotherapy kills aberrant bone marrow cells and prevents them from creating the atypical proteins that cause amyloid plaques.
A bone marrow transplant can be another such method to replace the unhealthy cells once destroyed with the deployment of chemotherapy. Recently, several treatments for transthyretin amyloidosis were approved by the US FDA. These drugs work by either ‘silencing’ the TTR gene or stabilising the TTR protein. As a result, more amyloid plaque deposition in the organs should be prevented.
The Genetic and Rare Diseases Information Centre estimates that persons with familial ATTR amyloidosis live for 7-12 years on average after receiving their diagnosis. People with wild-type ATTR amyloidosis have an average survival time of four years after diagnosis, according to a study in the journal Circulation. The heart frequently develops amyloid fibrils as a result of ATTR amyloidosis. This may result in dangerous cardiac failure and irregular heart rhythms.