Rare Pulmonology News

Disease Profile

Familial amyloidosis, Finnish type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

ageofonset-adult.svg

ICD-10

E85.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

rnn-autosomaldominant.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Amyloidosis, Meretoja type; Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis V;

Categories

Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;

Summary

Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin.[1] The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene.[2][1] Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.[2]

Symptoms

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).[2][1]

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

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.[1] Facial paralysis can also cause additional eye symptoms including ectropium (turning out of the eyelid), corneal ulcers, or droopy eyelids (ptosis).[2] Affected individuals may also have peripheral neuropathy.[1] Central nervous system symptoms such as impaired cognitive function are rare but have been reported in older individuals.[2]

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.[2][1] Cutis laxa worsens with age.[2]

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.[2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bilateral ptosis
Drooping of both upper eyelids
0001488
Dermatological manifestations of systemic disorders
0001005
Dry skin
0000958
Keratoconjunctivitis sicca
Dry eyes
0001097
Lattice corneal dystrophy
0001149
30%-79% of people have these symptoms
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Ataxia
0001251
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Constrictive median neuropathy
0012185
Corneal ulceration
0012804
Cutis laxa
Loose and inelastic skin
0000973
Distal peripheral sensory neuropathy
0007067
Facial palsy
Bell's palsy
0010628
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Myokymia
0002411
Polyneuropathy
Peripheral nerve disease
0001271
Regional abnormality of skin
0011356
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation

[ more ]

0000217
5%-29% of people have these symptoms
Abnormal spleen morphology
0025408
Blepharochalasis
0010749
Cardiomyopathy
Disease of the heart muscle
0001638
Diffuse skin atrophy
0007488
Dysarthria
Difficulty articulating speech
0001260
Glaucoma
0000501
Orthostatic hypotension due to autonomic dysfunction
0004926
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Sleep apnea
Pauses in breathing while sleeping
0010535
Sparse hair
0008070
Tongue atrophy
Wasting of the tongue
0012473
1%-4% of people have these symptoms
Bulbar signs
0002483
Deficit in phonologic short-term memory
0002549
Depressivity
Depression
0000716
Nail dystrophy
Poor nail formation
0008404
Respiratory tract infection
Respiratory infection
0011947
Stage 5 chronic kidney disease
0003774
Percent of people who have these symptoms is not available through HPO
Abnormal abdomen morphology
Abnormality of abdomen structure
0001438
Adult onset
Symptoms begin in adulthood
0003581
Autosomal dominant inheritance
0000006
Bulbar palsy
0001283
Cardiac amyloidosis
0030843
Generalized amyloid deposition
0003216
Nephrotic syndrome
0000100
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

    • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
      • Genetics Home Reference (GHR) contains information on Familial amyloidosis, Finnish type. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial amyloidosis, Finnish type. Click on the link to view a sample search on this topic.

          References

          1. Lattice corneal dystrophy type II. Genetics Home Reference. April, 2012; https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii. Accessed 11/18/2013.
          2. 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.
          3. Solomon JP, Page LJ, Balch WE, Kelly JW. Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Crit Rev Biochem Mol Biol. May-June, 2012; 47(3):282-296. Accessed 11/20/2013.

          Rare Pulmonology News