Former Pakistan President Pervez Musharraf suffers from Amyloidosis: Know more about the rare disease

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Former Pakistan President Pervez Musharraf has been suffering from Amyloidosis, a rare disease, informed his family on Twitter amid false reports of his death. “He is not on the ventilator. Has been hospitalised for the last 3 weeks due to a complication of his ailment (Amyloidosis). Going through a difficult stage where recovery is not possible and organs are malfunctioning. Pray for ease in his daily living,” the message on Pervez Musharraf’s official Twitter handle stated.

What is Amyloidosis?

As a rare disease that occurs due to protein build up that alters the functioning of the tissues, it can cause organ dysfunction and death, informed Dr Atul Ingale, Consultant Nephrologist and Transplant Physician, Director, Department of Nephrology, Fortis Hiranandani Hospital, Vashi.

According to a National Center for Biotechnology Information paper, it affects less than 2,00,000 people in the United States which is why it is classified as a rare disease by the National Institutes of Health.

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What causes it?

Amyloid fibrils are protein polymers comprising identical monomer units (homopolymers) which get built up in the organs. Functional amyloids play a beneficial role in a variety of physiologic processes like long-term memory formation and the gradual release of stored peptide hormones. Amyloidosis results from the accumulation of pathogenic amyloids(type of protine)—most of which are aggregates of misfolded proteins—in a variety of tissues, Dr Ingale noted.

How is it diagnosed?

Amyloidosis is diagnosed when Congo red–binding material/immunostaining/antibodies are demonstrated in a biopsy specimen. It can be diagnosed through Biopsy taken from the rectum/endomyocardial/kidney/skin.

How is it treated?

Definitive determination of the underlying protein is critical since prognosis and treatment of amyloidosis can vary widely depending on the responsible protein, according to NCBI. “Different treatment approaches need to be applied depending on the type of amyloidosis,” said Dr Ingale.

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