Meretoja Syndrome

At a glance

It is a primary hereditary systemic amyloidosis (Type II) characterized by cardiac and airway implications. Clinical features include corneal lattice dystrophy and cranial neuropathy (eg, facial paresis), nephrotic syndrome and renal failure, and cutis laxa. Progressive peripheral polyneuropathy is mainly affecting vibration and touch senses is a feature present in these individuals. The onset of the disease begins much later in life usually around the age of 50 to 70 years.

Synonyms

Lattice Corneal Dystrophy Type II; Amyloidosis Type V; Finnish Type Amyloidosis; Meretoja Type Amyloidosis; Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy; Amyloidosis due to Mutant Gelsolin; Generalized Amyloid Disease; Ardalan–Shoja–Kiuru Syndrome.

History

The Ardalan–Shoja–Kiuru Syndrome (known as the Meretoja Syndrome) is medical condition was first recognized by two Iranian physicians, Mohammad Ardalan and Mohammadali Shoja and a neurologist from Finland named Sari Kiuru-Enari. The Meretoja Syndrome, also known as hereditary gelsolin amyloidosis, was originally described by Jouko Meretoja, a Finnish ophthalmologist, in 1973. It was also called Familial Amyloidosis Finnish Type. Clinically, it was characterized by hereditary gelsolin, amyloidosia, and retinitis pigmentosa. In addition to the classic manifestations reported in the Finnish type Familial Amyloidosis, cutis laxa, progressive peripheral neuropathy, and corneal lattice dystrophy complete the diagnosis. The association of hereditary gelsolin amyloidosis and retinitis pigmentosa was never seen outside this single Iranian family.

Genetic inheritance

Autosomal dominant.

Pathophysiology

Amyloidosis type V results from the extracellular deposition of gelsolin, a proteinaceous material. These deposits impair organ function.

Diagnosis

Amyloid deposits in the skin, kidneys, and heart. Genetic mutation in gelsolin (asp187-to-asn) found in all Finnish families and in several Scottish American cases studied and can therefore be diagnostic.

Clinical aspects

Arises from infiltration of all tissues by amyloid deposits. Functional impairment may lead to death, particularly when the liver, kidney, brain, or heart is affected. Cardiac conduction system dysfunction is often present and the consequence is bradyarrhythmia and hypotension. This amyloidosis is often associated with macroglossia and benign tumors of the tracheobronchial tree.

Precautions before anesthesia

Assess the airways because of the extensive amyloidosis deposits. In adults, if possible obtain an endoscopic status down to the carina. Obtain a detailed cardiac history; look for dysrhythmias, syncopes, pacemaker. Ask for signs of diastolic dysfunction, sudden dyspnea attacks, orthopnea. Obtain ECG and echocardiogram.

Anesthetic considerations

Be prepared for difficult laryngoscopy and tracheal intubation (fiberoptic intubation). Be prepared for (complete) heart block: atropine, isoprenaline, dopamine, and/or external pacemaker should be available and ready for use. Arterial line. Be prepared for diastolic dysfunction; titrate fluids carefully. Pulmonary artery catheter and/or echocardiography can be useful.