Angiokeratoma corporis diffusum
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(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