[MIM 301 500]

(Fabry disease, Anderson-Fabry disease, lipoidal thesaurismosis, Fabry hereditary sphingolipidosis)

Prevalence: (1/40,000). X-linked glycosphingolipidosis. Mutation of the GLA gene which encodes the α-galactosidase A. An anomaly or deficiency of the α-galactosidase causes the accumulation of glycolipids in lysosomes of endothelial cells. Heterozygous women and girls may have the same symptoms but at a later age.

Clinical presentation:

-         skin angiokeratomas

-         infiltration of the myocardium: hypertrophic or ischemic cardiomyopathy, LVH at the age of 20 years, arrhythmias, short PR; gradual infiltration of valves (mitral regurgitation). 

-         lymphedema

-         painful abdominal crises, 

-         renal failure (20 years), 

-         cataracts

-         hypohydrosis

-         high risk of stroke. 

-         arthralgia and neuropathic pain from the age of 4-5 years, especially at the level of the hands and feet.

Treatment: regular iv injections (every 2 weeks) of recombinant enzyme  (agalsidase alpha or beta), antiplatelet agents

Anesthetic implications: 

preoperative cardiac evaluation. Difficult intubation (small mouth opening, due to infiltration of the temporomandibular joint). Pulmonary complications. 

References : 

-        Watanabe H, Aoki T, Ono A. 
The anesthetic management of a patient with Fabry's disease (in japanese). 
Masui 1995; 44:1258-60.

-        Woolley J, Pichel AC.
Peri-operative considerations for Anderson-Fabry disease.
Anaesthesia 2008 ; 63 : 101-2.

-        Krüger S, Nowak A, Müller TC.
General anesthesia and Fabry disease : a case report.
A&A Case Reports 2017 ; 8 : 247-9

Updated: June 2017