Paula and Bobby
Parents of Lillie
Amyloidosis, Finnish type
What is Amyloidosis, Finnish type?
Amyloidosis, Finnish type is a rare disease. It is also known as Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy Amyloidosis Due To Mutant Gelsolin Amyloidosis V Amyloidosis, Meretoja Type Corneal dystrophy - Lattice type II Corneal dystrophy - Meretoja type Meretoja dystrophy.
This disorder is another Finnish disorder, of uncertain inheritance (it is either autosomal recessive or incompletely dominant). The main features are a corneal snowflake dystrophy (corneal lattice dystrophy), first noticed in the late teens (with possible earlier age of onset in females), pseudo-exfoliation of the lens capsule, pigmentary abnormalities and degenerative joint disease. In some cases, iris colour appears to change from blue to green in teenagers. There are large star-shaped pigmented cells on the anterior surface of the lens capsule. Affected individuals have excessive nevi and freckles, as well as deficient sun-tanning or vitiligo, urticaria, early alopecia and early greying of hair. Milk intolerance, lactose malabsorption and vitamin A malabsorption may also be part of the condition; cranial neuropathy, bulbar signs, and skin abnormalities mya also be present
Meretoja (1969) reported ten cases of generalized amyloidosis with onset in the 3rd decade of a lattice corneal dystrophy, followed by cranial nerve palsies, mostly the 7th cranial nerve. Bulbar signs and a motor/sensory mixed peripheral neuropathy might develop. The skin changes included blepharochalasis, cutis laxa, and lichenification. The lattice dystrophy is caused by small deposits of amyloid in the cornea. In the large Finnish families described there were two possible instances of homozygosity of this dominantly inherited disease - the onset was earlier and the manifestations more severe. The condition has been described outside Finland. A small number of Japanese families have been described (Akiya et al., 1996 and Ikeda et al., 2007).
The molecular pathology has been elucidated (Haltia et al., 1992). The novel amyloid fibril found is a degradation product of gelsolin, an actin-binding protein encoded by the GSN gene. The commonest mutation is a G to A substitution at position 654, and this has also been found in four American families, as well as Japanese and other families (Steiner et al., 1995).
Sagnelli and colleagues (2016) reported the family with hereditary amyloidosis and facial palsy. The proband, his mother, maternal aunt and grandfather presented with bilateral facial weakness.
Caress et al. (2016) described five patients from a family with bulbar motor neuropathy due to a D187Y substitution in the GSN gene. Clinical features included facial muscle twitching, swallowing difficulties, dysarthria, dry eyes, droopy eyes that required blepharoplasty, and tongue atrophy with fasciculations.
* This information is courtesy of the L M D.
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What gene changes cause Amyloidosis, Finnish type?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 105120 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
GSN - 9q33.2
What are the main symptoms of Amyloidosis, Finnish type?
The typical symptoms of the syndrome are:
Generalized amyloid deposition, Nephrotic syndrome, Autosomal dominant inheritance, Polyneuropathy, Renal insufficiency, Lattice corneal dystrophy, Cutis laxa, Dysautonomia, Abnormality of abdomen morphology, Bulbar palsy, Cardiomyopathy, Adult onset
How does someone get tested for Amyloidosis, Finnish type?
The initial testing for Amyloidosis, Finnish type can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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