The Finnish Amyloidosis Association

Patient association for people suffering from Meretoja disease

Hereditary gelsolin amyloidosis (AGel amyloidosis), also known as Meretoja disease; familial amyloidosis, Finnish type (FAF); and familial amyloid polyneuropathy type IV

Do you suffer from Meretoja disease? Do you have eye and vision problems increasing with age, skin symptoms, numbing of fingertips and limpness of facial muscles?

Are you treating a patient with such symptoms?

Are you interested in this disease for other reasons?

Our association – SAMY – can help you obtain up-to-date information about 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, whose findings were published in 1969. The disease is inherited as an autosomal (not sex-linked) dominant trait, which means that every child whose mother or father is a sufferer has a 50 per cent probability of carrying the gene defect and thereby becoming a sufferer as well. If the child is healthy (i.e. they do not carry the gene defect) they cannot pass it on to their offspring[JC1] . Meretoja disease may have originated in the Finnish province of Häme (Lammi County) in the medieval period. Since then it has been mainly encountered in the areas of Häme and Kymi, particularly in Valkeala. The approximate number of affected individuals in Finland is around 1,000. However, lately kindreds with this amyloidosis have also been reported from several other European countries, North America and Japan.

AGel amyloidosis is characterised by an accumulation of an abnormal protein, called gelsolin amyloid, in many tissues. These accumulations are associated with symptoms, and eye, skin, and neurological problems are particularly common. The clinical diagnosis based on corneal changes is usually made by an eye specialist, at the age of 20 to 30 at the earliest. However, molecular genetic diagnosis with a blood DNA test is possible earlier, even prenatally (before the birth of a child). The net-like degeneration visible in the cornea can be associated with irritation and drying of the eyes, frequent eye infections, and, later in 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 kidney and heart manifestations. However, usually the symptoms in this type of amyloidosis become more troublesome only later in life. In contrast, patients who have inherited the disease from both parents have a more serious situation: their symptoms are more severe, in particular kidney manifestations, and all their children will inherit the disease.

Meretoja disease is still little known among the general population and even among medical professionals. In 1990, the gene mutation that causes the disease was found in human chromosome 9. This mutation results in abnormal metabolic processing of gelsolin protein with a subsequent accumulation of abnormal gelsolin amyloid in most tissues. However, new information concerning this amyloidosis is now swiftly mounting, including from countries other than Finland where cases are being increasingly reported. Currently there is no cure or specific medication for Meretoja disease, but symptomatic treatments can be offered, such as eye drops and operations, skin treatment, corrective facial surgery and operative nerve liberation in the case of carpal tunnel syndrome.

What is the Finnish Amyloidosis Association (SAMY)?

The association, known as SAMY (an abbreviation of its Finnish name), was founded on 10 June 1997. It is based in the city of Kouvola. Membership is currently close to 250 and is on the rise. Patients with Meretoja disease, individuals and groups supporting SAMY’s goals, and medical professionals interested in the study of this disease are welcome to join our association. The annual membership fee is EUR 20.

SAMY is a subsidiary of the Finnish Patient Union. All SAMY members receive a complimentary subscription to the magazine Suomen potilas (published by the Finnish Patient Union in Helsinki; ISSN 0784-5944), which also functions as one of our association’s information channels.

The objectives of SAMY

The primary objective of SAMY is to spread knowledge and awareness of Meretoja disease among those affected and their relatives; medical professionals in research, healthcare and social work; as well as anyone else who is interested. SAMY also functions as the meeting forum for patients, as their representative and supporter in acquiring information on therapeutic options as well as related benefits and subsidies, and as a promoter of research into Meretoja disease.

SAMY’s activities

SAMY participates in the publishing and distribution of information on the disease to its members. SAMY also organises biannual meetings including lectures covering topics on Meretoja disease, its symptoms, treatments, related social and health issues, and new research findings. The association’s activities are based on voluntary work, but it may also apply for grants, hold jumble sales and receive donations to support its activity.

How to join us

Primarily by calling +358 45 877 44 11 (mobile – Tuesdays from 6 to 8 p.m.).

Additional information online: currently mainly in Finnish (Google keyword search: amyloidoosi).

You can also find up-to-date information on SAMY in Suomen potilas magazine.

To increase knowledge on Meretoja disease

Always do the following:

If you are a doctor who has diagnosed Meretoja disease in your patient: give information, preferably this website address, but at least the contact details of the Finnish Amyloidosis Association (SAMY).

If you are a patient who has been diagnosed with Meretoja disease: tell others 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.