Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Symptoms in patients with amyloidosis result from abnormal
functioning
of the particular organs involved. The heart, kidneys, liver,
bowels,
skin, nerves, joints, and lungs can be affected. As a result, symptoms are vague and can include fatigue, shortness of breath, weight loss, lack of appetite, numbness, tingling, weakness, enlarged tongue, and swelling. Amyloidosis
affecting the
kidney leads to "nephrotic syndrome," which is
characterized by
severe loss of protein in the urine and swelling of the
extremities.
How is amyloidosis diagnosed?
The diagnosis of amyloidosis is made by detecting the
characteristic
amyloid protein in a biopsy specimen of involved tissue (such
as mouth,
rectum, fat, kidney, heart, or liver). A needle aspiration biopsy of fat just under the skin of the belly (fat pad aspiration), originally developed at Boston University, offers a simple and less invasive method to diagnose systemic amyloidosis. Pathologists can see the protein in the biopsy specimen when it is coated with a special dye, called Congo red stain.
How is amyloidosis treated?
Initial treatment of amyloidosis involves correcting organ failure and
treating
any underlying illness (such as myeloma, infection, or
inflammation). The
disease is frequently
discovered after significant organ damage has already occurred. Therefore, stabilization of organ function is an initial target of treatment.
The most
frequent cause of death in systemic amyloidosis is kidney failure.
Sephardic Jews and Turks inherit a genetic disease called Familial Mediterranean Fever,
which is associated with amyloidosis and
characterized by episodes of "attacks" of fever,
joint, and
abdominal pains. These attacks can be prevented with the
medication
colchicine. Armenians and Ashkenazi Jews also have a higher
incidence of
Familial Mediterranean Fever attacks but do not suffer amyloid
deposition
disease. Other reports of amyloidosis in families are extremely
rare.
Researchers are currently enrolling patients with primary amyloidosis in
clinical trials using a cancer chemotherapy medication (melphalan [Alkeran]), in conjunction with
bone-marrow stem-cells transplantation. The results have been
promising, and this combination treatment is offered to eradicate the amyloidosis in selected patients, provided that the underlying medical condition of the patient is adequate. These aggressive treatment options with stem-cell transplantation and high doses of chemotherapy are a true breakthrough in the treatment of these patients.
Familial amyloidosis can now be cured with liver
transplantation. This option requires an accurate
diagnosis of the
specific protein that causes the disease.
Congestive heart failure (CHF) is a condition in which the heart's function as a pump is inadequate to meet the body's needs. A poor blood supply resulting from congestive heart failure may cause the body's organ systems to fail, leading to a weakened heart muscle and fluid accumulation in the lungs and body tissue. There are many diseases that can impair pumping efficiency and symptoms of congestive heart failure including fatigue, diminished exercise capacity, shortness of breath, and swelling. Treatments include lifestyle modifications, medications, heart transplant, and therapy.
Multiple myeloma is a form of cancer that develops in plasma cells, the white blood cells that make antibodies. Symptoms include bone pain, weakness, extreme thirst, nausea, frequent urination, and broken bones. Treatment of multiple myeloma depends upon the staging and symptoms of the disease.
Carpal tunnel syndrome is a condition in which irritation of the wrist's median nerve causes tingling and numbness of the thumb, index, and the middle fingers. This condition is known as tarsal tunnel syndrome in the ankles and feet. Treatment of carpal tunnel syndrome depends on the severity of the symptoms and the nature of any disease that might be causing the symptoms.
Osteomyelitis is an infection of the bone. Potential causes include injections around the bone, fractures that puncture the skin, recent surgeries, and bacterial infections that travel from other areas of the body, spreading through the blood to the bone. Symptoms include pain, fever, chills, stiffness, and nausea. Treatment involves antibiotics and pain medications. Surgery is sometimes necessary.
Orthostatic hypotension symptoms include lightheadedness, weakness, blurred vision, and syncope or passing out. Causes of orthostatic hypotension include dehydration, anemia, medication, blood loss, low blood pressure, heat related illnesses and more. Treatment of orthostatic hypotension depends on the underlying cause.
Sudden cardiac arrest is an unexpected, sudden death caused by sudden cardiac arrest (loss of heart function). Causes and risk factors of sudden cardiac arrest include (not inclusive): abnormal heart rhythms (arrhythmias), previous heart attack, coronary artery disease, smoking, high cholesterol, Wolff-Parkinson-White Syndrome, ventricular tachycardia or ventricular fibrillation after a heart attack, congenital heart defects, history of fainting, and heart failure, obesity, diabetes, and drug abuse. Treatment of sudden cardiac arrest is an emergency, and action must be taken immediately.
Brain lesions (lesions on the brain) are caused by trauma, inflammation, autoimmune diseases, cancers, other diseases, stroke, bleeding, pituitary adenomas, and cerebral palsy. Symptoms of brain lesions include headache, nausea, fever, neck pain and stiffness, affected vision and speech, weakness or paralysis to one side of the body. Diagnosis of brain lesions is generally with imaging studies like CT or MRI scans. Treatment and prognosis of brain lesions depends on the cause of the lesion.
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