Muckle-Wells Syndrome

At a glance

It is a very rare genetic disorder with an onset in infancy and characterized by deafness (adolescence), nonpruritic urticaria, and renal amyloidosis type AA. The most common presentation of AA amyloidosis is renal in nature, including proteinuria, nephrotic syndrome and progressive development of renal insufficiency leading to End Stage Renal Disease. Other clinical features include arthralgias and/or conjunctivitis.

Synonyms

Urticaria-Deafness-Amyloidosis Syndrome; UDA Syndrome.

Incidence

There are fewer than 150 cases reported since the first description in 1962.

Genetic inheritance

Autosomal dominant with variable penetrance.

Clinical aspects

Most patients present with some or all of the following manifestations: chronic urticaria, sensorineural deafness, periodic arthritis, “aguey bouts.” “Aguey bouts” are composed of (a) chills, rigors, and malaise; (b) aching pains in distal limbs and large joints; and (c) urticarial rash over the whole body. Associated findings may include renal amyloidosis (and renal insufficiency), aminoaciduria, conjunctivitis, abdominal pain, angioedema, meningitis, and aphthous ulceration of the buccal mucosa. Hyperglycinuria, and renal stones, as well as renal amyloidosis, have been reported, but neither is required for the diagnosis.

Anesthetic considerations

Evaluation of renal function and fluid status because of the risk of nephrotic syndrome. Also, the kidney function must be evaluated as affected patients may show signs of variable stages of renal failure. Because attacks may be induced by cold, hypothermia should be prevented. Renal function must be considered in the selection of anesthetic agents.

Pharmacological Implications

There are no known implications.

Other conditions to be considered

• NOMID (Neonatal-Onset Multisystem Inflammatory Disease; Prieur-Griscelli Syndrome, CINCA Syndrome [European Name]; Chronic Infantile Neurologic Cutaneous Articular Syndrome [European Name]; Periodic Familial Fevers): An acronym that stands for Neonatal-Onset Multi-system Inflammatory Disease. NOMID has the highest severity of chronic inflammation of all the forms of Cryopyrin-associated Periodic Syndromes (CAPS), which is part of group of autoinflammatory diseases. Autosomal dominant mutation of the NLRP3 gene on chromosome 1q44, which encodes for a pyrin-like protein expressed predominantly in peripheral blood leukocytes. This protein is involved in the formation of inflammasomes and the mutation results in the production of inflammasomes independent of infections. It is characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. Treatment consists of daily subcutaneous injections of the IL-1 receptor antagonist (anakinra) and corticosteroid therapy. NOMID, the least common disease, is present around the world, and usually starts shortly after birth.

• Cryopyrin-associated Periodic Syndromes (CAPS; Cryopyrin-associated Autoinflammatory Syndrome): These are three diseases related to a defect of the same gene. They are the “neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells Syndrome, and Familial Cold ...