Amyloidosis, Causes, Signs and Symptoms, Diagnosis and Treatment.

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06/30/23

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Chapters

0:00 Introduction
1:06 Types and Causes of Amyloidosis
3:15 Symptoms of Amyloidosis
4:04 Diagnosis of Amyloidosis
4:26 Treatment of Amyloidosis

Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue.[4] There are several non-specific and vague signs and symptoms ****ociated with amyloidosis.[5] These include: fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and feeling faint with standing.[5] In AL amyloidosis, specific symptoms can include enlargement of the tongue and periorbital purpura.[5] In wild-type ATTR amyloidosis, non-cardiac symptoms include: bilateral carpal tunnel syndrome, lumbar spinal stenosis, bicep tendon rupture, small fiber neuropathy, and autonomic dysfunction.[5]

There are about 36 different types of amyloidosis, each due to a specific protein misfolding.[6] Within these 36 proteins, 19 are grouped into localized forms, 14 are grouped as systemic forms, and 3 proteins can identify as either.[6] These proteins can become irregular due to genetic effects, as well as through acquired environmental factors.[6] The four most common types of systemic amyloidosis are light chain (AL), inflammation (AA), dialysis-related (Aβ2M), and hereditary and old age (ATTR and familial amyloid polyneuropathy[7]).[2]

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.[2] Diagnosis is confirmed by tissue biopsy.[2] Due to the variable presentation, a diagnosis can often take some time to reach.[3]

Treatment is geared towards decreasing the amount of the involved protein.[2] This may sometimes be achieved by determining and treating the underlying cause.[2] AL amyloidosis occurs in about 3–13 per million people per year and AA amyloidosis in about 2 per million people per year.[2] The usual age of onset of these two types is 55 to 60 years old.[2] Without treatment, life expectancy is between six months and four years.[2] In the developed world about 1 per 1,000 people die annually from amyloidosis.[3] Amyloidosis has been described since at least 1639.[2]