What Is Amyloidosis, The Rare Disease Pervez Musharraf Is Suffering From?

Pervez Musharraf, the former president of Pakistan, is suffering from a rare disease called Amyloidosis. In a statement released on Musharraf’s Twitter account, his family stated,  “He is not on a ventilator. He has been hospitalized for the last 3 weeks due to a complication of his ailment (Amyloidosis). He is going through a difficult stage where recovery is not possible and organs are malfunctioning”.

We spoke with Dr. Atul Ingale, Consultant of Nephrology and Transplant Physician, Fortis Hiranandani Hospital, Vashi to know about details of this rare condition. 

What is Amyloidosis?

Amyloidosis is a rare disease that can occur because of protein buildup in the tissues of the organs. It can cause multiple organ disorders but majorly affects the kidneys. According to the National Center for Biotechnology Information paper, it hardly affects 2 lakh people in the US. In India, this number is even lower where the exact number of cases are not known. Dr Ingale tells us that men have an increased risk of contracting this disease  than females. It affects people between the age of 22-72 years with the mean age being 51 years. Heart failure is the most common manifestation of this rare condition.

Cause of Amyloidosis

“Amyloid fibrils are polymers of protein that compromise with identical monomer units which build up in the organs” says Dr. Atul Ingale. These polymers are responsible for long-term memory information and gradual release of stored peptide hormones. A person suffering from amyloidosis can have memory loss, organ failures and tissue dysfunction in multiple organs. There are different kinds of amyloidosis but there are two types of amyloidosis, primary and dialysis related, which are common.

Primary amyloidosis is caused by underlying kidney dysfunctions and Dialysis related amyloidosis happens as a result of being on dialysis for a long period of time.

Also Read- Diet For Kidney Patients: What Should You Eat And Avoid?

What are signs and symptoms of Amyloidosis?

The most common sign of primary amyloidosis is nephrotic syndrome. This syndrome affects organs in the body in such a way that it could affect-

• Protein in the urine
• High levels of fat and cholesterol in blood
• Swelling
• Low levels of protein in blood

Common signs of dialysis related amyloidosis can include-

• Joint pain and stiffness in joints
• Cysts in the bones
• Numbness or tingling in hands or fingers

Diagnosis of Amyloidosis

This rare condition is not easy to diagnose. Amyloidosis can be diagnosed only when Congo-red binding material, antibodies or immunostaining are demonstrated in the biopsy specimen. The diagnosis is done through a biopsy through the kidney, rectum, endomyocardial or skin of the person. 

Also Read- What Is Ramsay Hunt Syndrome? Justin Bieber’s Rare Neurological Disorder Explained

How can Amyloidosis be Treated?

Dr. Ingale says that the treatment of this rare disease depends on the type and severity of amyloidosis. The determination of underlying protein in the body is critical to know about prognosis of amyloidosis condition. There is a need for 4 drug combinations called daratumumab, bortezomib, cyclophosphamide and dexamethasone, to be effective and safe.

Disclaimer- Please consult a doctor for medical advice and consultation. This is general information which might not be implemented for everyone equally.