Amyloidoses
| Amyloidosis | |
|---|---|
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| Classic facial features of AL amyloidosis with bleeding under the skin around the eyes | |
| Specialty | Endocrinology, rheumatology, cardiology |
| Symptoms | Feeling tired, weight loss, swelling of the legs, shortness of breath, bleeding, feeling light headed with standing |
| Usual onset | 55–65 years old |
| Causes | Genetic or acquire |
| Diagnostic method | Tissue biopsy |
| Treatment | Supportive care, directed at the underlying cause, dialysis, organ transplantation |
| Prognosis | Improved with treatment |
| Frequency | 3–13 per million per year (AL amyloidosis) |
| Deaths | 1 per 1,000 people (developed world) |
| Classification |
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| External resources |
Amyloidosis is a group of diseases in which abnormal protein, known as amyloid fibrils, builds up in tissue. Symptoms depend on the type and are often variable. They may include diarrhea, weight loss, feeling tired, enlargement of the tongue, bleeding, numbness, feeling faint with standing, swelling of the legs, or enlargement of the spleen.
There are about 30 different types of amyloidosis, each due to a specific protein misfolding. Some are genetic while others are acquired. They are grouped into localized and systemic forms. The four most common types of systemic disease are light chain (AL), inflammation (AA), dialysis (Aβ2M), and hereditary and old age (ATTR).
Diagnosis may be suspected when protein is found in the urine, organ enlargement is present, or problems are found with multiple peripheral nerves and it is unclear why. Diagnosis is confirmed by tissue biopsy. Due to the variable presentation, a diagnosis can often take some time to reach.
Treatment is geared towards decreasing the amount of the involved protein. This may sometimes be achieved by determining and treating the underlying cause. AL amyloidosis occurs in about 3–13 per million people per year and AA amyloidosis in about 2 per million people per year. The usual age of onset of these two types is 55 to 60 years old. Without treatment life expectancy is between half and four years. In the developed world about 1 per 1,000 people die from amyloidosis. Amyloidosis has been described since at least 1639.
The presentation of amyloidosis is broad and depends on the site of amyloid accumulation. The kidney and heart are the most common organs involved.
Amyloid deposition in the kidneys can cause nephrotic syndrome, which results from a reduction in the kidney's ability to filter and hold on to proteins. The nephrotic syndrome occurs with or without elevations in creatinine and blood urea concentration, two biochemical markers of kidney injury. In AA amyloidosis, the kidneys are involved in 91–96% of people, symptoms ranging from protein in the urine to nephrotic syndrome and rarely renal insufficiency.
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Wikipedia