
Content
Background:

Fabry's disease (FD) is a rare systemic X-linked disease, even though its real incidence is unknown. It is related to a glycosphingolipid metabolism disorder in the alpha-galactosidase A enzyme, causing an accumulation of glycosphingolipids in the lysosomes. This results in anatomic abnormalities and organ dysfunction that can increase the risk of anesthesia complications. Clinical picture combines neurological (Fabry's pain crises), dermatologic, renal, cardiovascular (hypertrophic cardiomyopathy, valvular disease, conduction disorder, coronary heart disease) and cerebrovascular affectations.

Epidural block is debated in patients with neurological diseases and recommendations are not unequivocal. 

Case Report:

A 27 y.o. pregnant patient (38 weeks of gestation) with known FD asked for labour analgesia. Her clinical symptoms were fatigue, irritable bowel, fingers, hands and legs pain, hearing loss, dyslexia and migraine, with no treatment. Preoperative evaluation showed ASA II, BMI 34, proteinuria (667 mg/24 hs), important oedema in face and lower limbs, difficult airway and ventilation predictors (Mallampati III, interincisor distance < 3 cm, poor cervical mobility, bite test grade II and obesity).

Due to the increased possibility of difficult airway, we decided to insert an epidural catheter for labour pain relief, to avoid general anaesthesia in case of a C-section.

Finally, a C-section was needed for non-progressive labour. Anaesthesia was provided via the previously placed epidural catheter. There were no complications. The epidural catheter was removed 24h after surgery, and the patient was discharged home uneventfully on the 3rd postoperative day.

Discussion:

Cases of FD submitted to other interventions usually require the use of video laryngoscopes or supraglottic devices due to difficult airway, but for obstetric patients, general anaesthesia must be avoided when possible.

References:

Anesth Analg 2017;125:822–36

Anesth Analg. 2017 Sep;125(3):716-718.

Bosn J Basic Med Sci. 2017 Jun 6. Epub ahead of print

Learning points:

An exhaustive preoperative evaluation is paramount to design the anaesthetic plan.

Epidural anaesthesia was used with success without any change in the clinical status and permitted to avoid a general anaesthesia and its inherent concerns in this pregnant patient with FD.

To our knowledge, this is the first report of neuro-axial regional anaesthesia performed in a parturient with FD.

02 / ANESTHETIC MANAGEMENT OF A PREGNANT PATIENT WITH FABRY´S DISEASE.