Gelsolin related amyloidosis
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Synonyms and keywords:Finnish type Hereditary Amyloidosis; Familial Amyloidosis of Finnish type (FAF);  Gelsolin; Familial Amyloid Polyneuropathy IV; Meretoja's disease; hereditary amyloidosis; amyloid angiopathy

# Overview
Gelsolin related amyloidosis is a sub group of familial amyloidosis and is also called familial amyloidosis of finnish type. it was first reported by Jouko Meretoja in 1969.It is thought that familial amyloidosis of Finnish type is caused by a monogenic mutation, which leads to misfolding of mutated gelsolin in the Golgi apparatus during cellular trafficking. Gelsolin coding area is around q32-34 of chromosome 9. Geloslin related amyloidosis  is caused by a G654A or G654T mutation. These mutations cause compromising calcium ions binding to backbone of gelsolin protein.

# Historical Perspective
- Gelsoline related amyloidosis was first reported by Jouko Meretoja in 1969.
- the patients studied had lattice dystrophy of the cornea and a cranial and peripheral neuropathy.

# Classification
- Gelsolin related amyloidosis is a sub group of familial amyloidosis and is also called familial amyloidosis of finnish type.

# Pathophysiology
- It is thought that familial amyloidosis of Finnish type is caused by a monogenic mutation, which leads to misfolding of mutated gelsolin in the Golgi apparatus during cellular trafficking.
- The fragments Which are cleaved are amyloidogenic themself.
- The amyloid deposit is a protein product of the gelsolin gene.
- Gelsolin gene is spliced to form cytoplasmic and secreted forms.
- The amyloidic fractions are due to aberrant processing of secretd form, also known as plasma gelsolin.
- Gelsolin coding area is around q32-34 of chromosome 9.
- One allele of mutant gene is enough for disease, it shows complete penetrence and autosomal dominant disease.
- Gelsoline related amyloidosis is a gain of toxic function mutation and disease.

# Causes
- Geloslin related amyloidosis  is caused by a G654A or G654T mutation.
- This mutations cause compromising calcium ions binding to backbone of gelsolin protein.

# Differentiating Gelosline Related Amyloidosis from Other Diseases
Familial amyloidosis of finnish type (geloslin related amyloidosis) must be differentiated from other familial types by molecular analysis.
- Existence of 5 KDa and 8 KDa fragments gelsolin amyloid fibril in electrophoresis.
Familial amyloidosis should be differentiated from the following systemic diseases:
- Acute myocarditis
- Bechterew's Disease
- Bronchiectasis
- Carpal Tunnel Syndrome
- Collagen Vascular Disease
- Drug/toxic nephropathy
- Familial Mediterranean Fever
- Glomerulonephritis
- Hemodialysis Amyloidosis
- Interstitial lung diseases
- Leprosy
- Monoclonal gammopathies
- Multiple Myeloma
- Myocardial fibrosis
- Nephrotic Syndrome
- Osteomyelitis
- Peripheral neuropathy
- Restrictive cardiomyopathy
- Rheumatoid Arthritis
- Rheumatoid Polyarteritis
- Syphilis
- Systemic Lupus Erythematosus
- Tuberculosis
- Ulcerative colitis
- Vitamin deficiencies

# Epidemiology and Demographics
- It is estimated that there is approximately 1000 carriers in Finland.
- Since the first report, many patients are seen all around the world.
- The majority of gelsolin related amyloidosis cases are reported in the United States, Japan, Portugal, England, Germany, Spain, France, Brazil, Sewden, Denmark, the Czech Republic, and Iran.

# Risk Factors
Incidence of non-hereditary gelsolin related amyloidosis is very low with the lack of established risk factors.

# Screening
There is insufficient evidence to recommend routine screening for gelsolin related amyloidosis.

# Natural History, Complications, and Prognosis
- In amyloidosis, insoluble fibrils of amyloid are deposited in the organs, causing organ dysfunction and eventually death.
- Gelsolin related amyloidosis causes a specific kind of neuropathy, the Meretoja's syndrome.
- It is defined as lattice corneal dystrophy, and develops after the third decade of life.
- Diagnostic triad include :
Progressive bilateral facial paralysis
Loose skin
Lattice corneal dystrophy
- Progressive bilateral facial paralysis
- Loose skin
- Lattice corneal dystrophy

# Diagnosis

## Diagnostic Study of Choice
- Diagnostic studies for gelsolin related amyloidosis are the same as for amyloidosis.
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## History and Symptoms
- Common symptoms of amyloidosis include abdominal pain, swelling, and enlarged tongue.
- Less common symptoms of amyloidosis include gastrointestinal bleeding, blood in urine, hoarseness and paresthesia.

## Physical Examination
- Physical examination findings of gelsolin related amyloidosis are the same as amyloidosis.
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## Laboratory Findings
- Laboratory findings of gelsolin related amyloidosis are the same as amyloidosis.
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## Electrocardiogram
- ECG findings of gelsolin related amyloidosis are the same as amyloidosis.
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## X-ray
- X-ray findings of gelsolin related amyloidosis are the same as amyloidosis.
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## Echocardiography or Ultrasound
- Echocardiographic findings of gelsolin related amyloidosis are the same as amyloidosis.
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## CT scan
- CT scan findings of gelsolin related amyloidosis are the same as amyloidosis.
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## MRI
- MRI findings of gelsolin related amyloidosis are the same as amyloidosis.
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## Other Imaging Findings
- Other imaging findings of gelsolin related amyloidosis are the same as amyloidosis.
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## Other Diagnostic Studies
- Other diagnostic studies of gelsolin related amyloidosis are the same as amyloidosis.
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# Treatment

## Medical Therapy
- Gelsolin related amyloidosis is typically discovered at an advanced stage.
- The initial treatment is aimed at preventing further organ damage and correcting the effects of organ failure.
- For a comprehensive guide on the treatment of amyloidosis, click here.

## Surgery
- Cardiac transplant may need to be done for patients with cardiac amyloidosis.
- Organ-specific transplant may need to be done, depending on the organ involved.

## Primary Prevention
There are no established measures for the primary prevention of gelsolin related amyloidosis.

## Secondary Prevention
There are no established measures for the secondary prevention of gelsolin related amyloidosis.