What is Amyloidosis, Rare Disease That Killed Pakistan’s Former President Pervez Musharraf?

Pakistan’s former military ruler General (retd.) Pervez Musharraf, the architect of the Kargil War in 1999, died on Sunday in Dubai after a prolonged illness.

Musharraf, 79, was suffering from amyloidosis, a rare disease caused by a build-up of an abnormal protein called amyloid in organs and tissues throughout the body, according to his family.

General (retd) Musharraf died at a hospital in Dubai.

He had been undergoing treatment at the American Hospital Dubai. He had been living in Dubai since 2016.

In a statement issued immediately after Musharraf’s death, the Inter-Services Public Relations (ISPR), the media wing of the Pakistan military, said that Chairman Joint Chiefs of Staff Committee General Sahir Shamshad and all the services chiefs express their heartfelt condolences.

But what is Amyloidosis? News18 explains:

Disease Due to Abnormal Protein

Amyloidosis is a rare disease that occurs when an abnormal protein builds up in organs and interferes with the normal function.

Amyloid is not normally found in the body, but it can be formed from a variety of protein types. The heart, kidneys, liver, spleen, nervous system, and digestive tract are among the organs that may be affected, Mayo Clinic explains in a report.

Some forms of amyloidosis are associated with other diseases. These types may improve if the underlying disease is treated. Some types of amyloidosis can result in life-threatening organ failure.

Chemotherapy, similar to that used to treat cancer, could be used as a treatment. The doctor may advise the patient to take medications to reduce amyloid production and alleviate symptoms. Organ or stem cell transplants may be beneficial to some people, the report states.

Symptoms of Amyloidosis

According to the report, one may not experience signs and symptoms of amyloidosis until the condition is advanced. When signs and symptoms appear, they are determined by which of the organs is affected.

Signs and symptoms of amyloidosis may include:

  • Swelling of your ankles and legs
  • Severe fatigue and weakness
  • Shortness of breath with minimal exertion
  • Unable to lie flat in bed due to shortness of breath
  • Numbness, tingling or pain in your hands or feet, especially pain in your wrist (carpal tunnel syndrome)
  • Diarrhea, possibly with blood, or constipation
  • Unintentional weight loss of more than 10 pounds (4.5 kilograms)
  • An enlarged tongue, which sometimes looks rippled around its edge
  • Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
  • An irregular heartbeat
  • Difficulty swallowing

Types of amyloidosis:

AL amyloidosis (immunoglobulin light chain amyloidosis): This is the most common type and was previously known as primary amyloidosis. AL stands for “amyloid light chains,” the type of protein that causes the condition. There is no known cause, but it occurs when your bone marrow produces abnormal antibodies that are unable to be broken down. It has been linked to multiple myeloma, a type of blood cancer. It has the potential to harm your kidneys, heart, liver, intestines, and nerves, according to a report by WebMd.

AA amyloidosis: This condition, formerly known as secondary amyloidosis, is caused by another chronic infectious or inflammatory disease, such as rheumatoid arthritis, Crohn’s disease, or ulcerative colitis. It primarily affects the kidneys, but it can also harm the digestive tract, liver, and heart. This type is caused by the amyloid type A protein, which is denoted by the letter AA.

Amyloidosis caused by dialysis (DRA): This is more common in older adults and those on dialysis for more than 5 years. This type of amyloidosis is caused by beta-2 microglobulin deposits in the blood. Deposits can form in a variety of tissues, but they most commonly affect bones, joints, and tendons.

Amyloidosis that runs in families: This is a rare variant that is passed down through families. It frequently damages the liver, nerves, heart, and kidneys. Many genetic flaws have been linked to an increased risk of amyloid disease. An abnormal protein, such as transthyretin (TTR), could be the culprit.

Age-related (senile) systemic amyloidosis: This is caused by normal TTR deposits in the heart and other tissues. It is most common in older men.

Amyloidosis of specific organs: This results in amyloid protein deposits in specific organs, including the skin (cutaneous amyloidosis).

Though some types of amyloid deposits have been linked to Alzheimer’s disease, amyloidosis, which occurs throughout the body, it rarely affects the brain.

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