What is amyloidosis, rare health condition Pervez Musharraf suffers from
A rare disease, amyloidosis leads to abnormal deposition of some forms of proteins in various body tissues leading to organ damage. All you want to know about the disease, its causes, symptoms, diagnosis and treatment.
Former Pakistan President Pervez Musharraf has been hospitalised for the past few weeks due to complications arising of the medical condition he is suffering from called amyloidosis, his family had informed in a Twitter message. "Going through a difficult stage where recovery is not possible and organs are malfunctioning. Pray for his ease of living," the message said. (Also read: What is cerebral aneurysm, the condition Chinese President Xi Jinping is suffering from)
A rare disease, amyloidosis leads to abnormal deposition of some forms of proteins in various body tissues leading to organ damage. Dr. Prashant Mehta, Sr. Consultant - Medical Oncology/Hematology & Unit Head- BMT explains the symptoms and some forms of the disease.
Symptoms of amyloidosis
Patients suffering from amyloidosis can have a multitude of symptoms like weight loss, easy fatiguability, waxy skin, easy bruising of skin, enlargement of muscles like tongue and deltoids, enlargement of liver, heart failure, loss of excessive proteins in urine (nephrotic syndrome), carpal tunnel syndrome and disorders of the nerves.
Diagnosis of amyloidosis
Dr Mehta says the abnormally deposited proteins in various tissues in amyloidosis have a characteristic appearance under the microscope when stained with dyes like Congo red which can diagnose the condition.
"Thus for a diagnosis tissue biopsy, most commonly an abdominal fat pad biopsy is generally used, but sometimes it can be initially diagnosed on a liver biopsy or even a bone marrow or liver biopsy. It is important to find type of amyloidosis using tests like free light chain assay, mass spectroscopy and sometimes amino acid sequencing," says the expert.
Amyloidosis is generally diagnosed in older population and overall prognosis is guarded though good treatment is available for some forms of amyloidosis.
Forms of amyloidosis and its treatment
- The most common form of amyloidosis in resource-constrained part of the world is generally the AA type which is caused by chronic infections like tuberculosis, or inflammatory disorders like rheumatoid arthritis and inflammatory bowel disorders. The treatment in such a scenario is directed at the underlying infection or inflammatory disease.
- The second type, TTR type mostly runs in families and is difficult to treat but newer advances like RNA targeted therapy is being tried with some success. For severe organ involvement, procedures like liver transplantation and kidney transplantation are sometimes done.
- The third type of amyloidosis is the AL or light chain Amyloidosis which is a part of the spectrum of plasma cell dyscrasias and is treated in a similar manner to multiple myeloma with Immunomodulatory treatment, chemotherapy and steroids. There is a role of Autologous bone marrow transplantation in treatment of suitable and relatively fit patients with AL amyloidosis and long term survival may be possible for these.