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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial amyloidosis, Finnish type


Other Names for this Disease

  • Amyloidosis, Meretoja type
  • Amyloid cranial neuropathy with lattice corneal dystrophy
  • Amyloidosis V
  • Familial amyloid polyneuropathy type IV
  • Hereditary gelsolin amyloidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of familial amyloidosis, Finnish type?

Symptoms of this condition usually begin in an individual's 20s or 30s, and they usually emerge in a specific order. The progression is often slow, but varies among individuals. The typical triad of features includes accumulation of amyloid deposits in the cornea (lattice corneal dystrophy), cutis laxa (sagging skin), and nervous system symptoms (neuropathy).[1][2]

Eye symptoms typically begin first. The amyloid deposits cloud the cornea, often leading to vision impairment.[2] Other eye symptoms may include dryness, irritation and light sensitivity. Affected individuals may eventually develop cataracts and glaucoma.[1]

As the condition progresses, the nerves become involved (typically in an individual's 40s). Dysfunction of the nerves in the head and face (cranial nerves) causes paralysis of facial muscles and decreased sensation, which can lead to difficulty speaking, chewing, and swallowing.[2] Facial paralysis can also cause additional eye symptoms including ectropium (turning out of the eyelid), corneal ulcers, or droopy eyelids (ptosis).[1] Affected individuals may also have peripheral neuropathy.[2] Central nervous system symptoms such as impaired cognitive function are rare but have been reported in older individuals.[1]

Skin manifestations may also begin in a person's 40s and include a thickened, sagging appearance and cutis laxa (loose skin that lacks elasticity), especially on the face.[1][2] Cutis laxa worsens with age.[1]

Other signs and symptoms that have been reported in some people include gastric motility changes, orodental problems, heart palpitations, cardiac conduction problems, and mild proteinuria.[1]
Last updated: 11/20/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Familial amyloidosis, Finnish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the abdomen -
Adult onset -
Autosomal dominant inheritance -
Bulbar palsy -
Cardiomyopathy -
Cutis laxa -
Generalized amyloid deposition -
Lattice corneal dystrophy -
Nephrotic syndrome -
Polyneuropathy -
Renal insufficiency -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Tiia Pihlamaa, Sinikka Suominen, Sari Kiuru-Enari. Familial amyloidotic polyneuropathy type IV – gelsolin amyloidosis. Amyloid. June, 2012; 19(S1):30–33. Accessed 11/18/2013.
  2. Lattice corneal dystrophy type II. Genetics Home Reference. April, 2012; http://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii. Accessed 11/18/2013.


Other Names for this Disease
  • Amyloidosis, Meretoja type
  • Amyloid cranial neuropathy with lattice corneal dystrophy
  • Amyloidosis V
  • Familial amyloid polyneuropathy type IV
  • Hereditary gelsolin amyloidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.