Systemic amyloidosis- what is this?
A 50-year-old female patient without the history of any diseases was admitted to hospital. She had difficulties in squatting for 5 years, impaired tongue movements, coarseness and dysphagia for 8 months, extensively tightened and pigmented skin for 6 months. She felt tingling when touching cold water and warming up hands relieved the symptom. The symptom kept progressing to the point where the skin became so extensively tightened that the movements of lower limbs were significantly restricted. Constitutional symptoms included low fever, fatigue, joint pain, and morning stiffness. She once visited a physician at local hospital where she was diagnosed as scleroderma. She was treated with traditional Chinese medicines and very little improvement was achieved. Two years ago, she had snoring and apnea during sleep and was diagnosed as obstructive sleep apnea hypopnea syndrome, but she refused noninvasive ventilation. Eight months ago, she visited a neurologist in other hospital due to difficulty in opening mouth and moving tongue, dysphagia, hoarseness, and ever-worsening skin tightness. Brain magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) showed bilateral lacunar infarction of basal ganglia, white matter demyelination in mild cerebral, multiple sclerosis in cerebral arteries, and mild stenosis of bilateral posterior cerebral artery. Neuro-electrography revealed mild to moderate demyelinating peripheral neuropathy and the damage in the left pyramidal tract. Polysomnography revealed a moderate obstructive sleep apnea-hypopnea syndrome and mild hypoxemia. She was then diagnosed as extrapyramidal disease and sleep apnea-hypopnea syndrome, and treated with madopar tablet and neurotropin. However, no evident effect was observed
@satyajit AL amyloidosis results from the deposition of fibrillar protein consisting of the light chain of immunoglobulin with the lambda type accounting for 75% of all cases. While this clonal B-cell disorder may be associated with multiple myeloma (MM) and lymphoma, it can also be idiopathic. Clinical and laboratory data, for example, plasmacytosis (12%) from bone marrow assay, indicate that the original disease is (MM). Amyloidosis occurs in about 15% of MM patients. Protean manifestations often lead to delayed and incorrect diagnosis. Biopsy specimens with positive Congo red staining is critical for its diagnosis. Identification of the type of immunoglobulin light chains helps unveil the underlying diseases. Although cumbersome, mass spectrometry of amyloid material remains the gold standard for its final diagnosis