Finnish Type Amyloidosis (Type V) is a disease caused by aberrant amyloid protein deposits that mostly damage the nerves, eyes, and skin. Its three primary features include corneal lattice dystrophy, bilateral facial paralysis, and “sagging skin” or cutis laxa. Also, changes in the GSN gene cause this disease, which is carried in an autosomal dominant way.
SYMPTOMS
Signs of the disease typically appear in a person’s twenties or thirties, and they normally occur in a particular sequence. The development is typically gradual, although it differs from person to person. The following are its usual signs:
Typically, eye problems are the first to appear. Amyloid deposits obscure the cornea, causing visual impairment. Moreover, dryness, inflammation, and photophobia are signs of eye problems. Individuals who are affected may ultimately acquire cataracts and glaucoma.
Furthermore, nerves get affected as the disease develops (usually in an individual’s 40s). Dysfunction of the nerves in the head and face (cranial nerves) results in facial muscle paralysis and reduced feeling, which may cause difficulties in speaking, eating, and sucking.
Ectropium (turning out of the eyelid), corneal ulcers, and droopy eyelids are further ocular symptoms linked with facial paralysis (ptosis). Individuals who are affected may also develop peripheral neuropathy. Additionally, central nervous system signs—such as decreased cognitive function—are uncommon but have been recorded in the elderly.
DIAGNOSIS
Finnish Type Amyloidosis affects the cornea, nervous system, and skin. Each affected part is diagnosed in different ways. The most common procedures for this condition include the following:
Dilated eye exam. A specialist may find out whether you have eye problems, such as eye dystrophy, through this test.
MRI and CT scan. This is used to ascertain the etiology of facial paralysis.
Physical examination. This procedure helps to determine cutis laxa.
TREATMENT
The treatment for the Finnish type amyloidosis is based on the symptoms. Doctors often treat this condition using:
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