The Finnish Amyloidosis Association
Patient Association for people suffering from Meretoja disease
Hereditary gelsolin amyloidosis (AGEL amyloidosis) also known asMeretoja disease; familial amyloidosis, Finnish type (FAF); and familialamyloid polyneuropathy type IV
- Do you suffer from Meretoja disease? Eye andvision problems increasing with age, skin symptoms, numbing offingertips and limpness of facial muscles?
- Are you treating a patient with such symptoms?
- Are you for other reasons interested in thisdisease?
- Our Association SAMY can help you acquire current information on it.
What is Meretoja disease?
Meretoja disease or hereditary gelsolin amyloidosis is one of the approximately 30 hereditary diseases particular to Finland. It was discovered by ophthalmologist (eye specialist) Dr. Jouko Meretoja and published in 1969. The disease is inherited as an autosomal (independent of sex) dominant trait, which means that every child from a diseased mother or father has a 50% probability to carry the gene defect and thereby become diseased as well. If the child is healthy (does not carry the gene defect) her/ his offspring will not have this disease either. The Meretoja disease may have originated in the Finnish province of Häme (Lammi County) in the medieval period. Later it has been mainly encountered in Häme and Kymi areas, particularly in Valkeala. The approximated number of affected individuals in Finland is around 1000. However, lately kindreds with this amyloidosis have also been reported from several other European countries, North America, and Japan.
AGel amyloidosis is characterized by accumulation of an abnormal protein called gelsolin amyloid in many tissues. These accumulations associate with symptoms, in particular eye, skin, and neurological problems are common. The clinical diagnosis based on corneal changes is usually made earliest at the age of 20 to 30 years by an eye specialist. However, molecular genetic diagnosis with a blood DNA-test is possible already earlier, even prenatally before the birth of a child. The net-like degeneration visible in the cornea can associate with irritation, drying, and frequent eye infections, and later at old age diminished vision. Sometimes it is accompanied by glaucoma and cataract. Typical skin symptoms are itching and dryness, and eventually the skin may become loosened, thinned and fragile. Frequent neurological symptoms are facial paresis with a rigid (taciturn) facial outlook, and numbing of fingertips and toes. Other signs of systemic organ involvement can occur, such as kidneyand heart manifestations. However, usually the symptoms in this type of amyloidosis become more troublesome first late in life. In contrast, in patients who have inherited the disease from both parents the situation is more serious. They have more severe in particular kidney manifestations and all their children will inherit the disease.
Meretoja disease is still less well-known among the general population and even medical professionals. In 1990 the disease causing gene mutation was found in the human chromosome 9. This mutation results in abnormal metabolic processing of gelsolin protein with subsequent accumulation of abnormal gelsolin amyloid in most tissues. However, new information concerning this amyloidosis is now swiftly mounting, also from other countries than Finland where patients have been increasingly reported. Currently there is no cure or specific medication in Meretoja disease but symptomatic treatments can be offered, such as eye drops and operations, skin treatment, and corrective facial surgery and operative nerve liberation in carpal tunnel syndrome.
What is the The Finnish Amyloidosis Association SAMY?
The Association SAMY was founded on the 10th of June in 1997. It is based in the city of Kouvola. Membership is currently close to 220 and is on the rise. Patients with Meretoja disease, persons and groups supporting SAMY's goals, and medical professionals interested in the study of this disease are welcome to join our Association. The yearly membership fee is 17euros.
SAMY is a subsidiary of The Finnish Patient Union. Every member of the SAMY receives as members benefit the subscription of Suomen potilas -magazine (Publisher: Finnish Patient Union. Helsinki. ISSN 0784-5944), which also functions as one information channel of our Association.
The objectives of SAMY
The objective of SAMY is to spread knowledge and awareness of Meretoja disease between affected persons and their relatives, medical professionals in research, healthcare and social work, as well as every and anyone interested. SAMY also functions as the meeting forum for patients, as their representative and supporter in acquiring information on therapeutical possibilities as well as related benefits and subsidies, and as a promoter of research in Meretoja disease.
The mode of action of SAMY
SAMY participates in publishing and distribution of information on the disease to its members. SAMY also organizes biannual meetings including lectures covering topics on Meretoja disease, its symptoms, treatments, related social and health issues, and new research findings. The Association's action is based on voluntary work, but it may also apply for grants, hold jumbles and receive donations to support its activity.
How to join us?
- Primarily by calling: +358 45877 4411(mobile. Fridays between 10-12 o'clock).
- Additional information from the net: currentlymainly in Finnish (Google keyword search: amyloidoosi).
- Up to date information on SAMY you can also find in the Suomen potilas -magazine.
To increase knowledge on Meretoja disease
Always do the following:
- If you are the doctor who has diagnosedMeretoja disease in your patient: give information, preferably thiswebsite address, but at least The Finnish Amyloidosis Association SAMY'scontact information.
- If you are the patient who has been diagnosed to have Meretoja disease: Tell about this disease and show this information in cases of medical attention and when asked.
The Finnish Amyloidosis Association | Patient Association for people suffering from Meretoja disease