HOMOCYSTINURIA : #Anesthesia IMPLICATIONS

⏫ There is increased(⏫) levels of homocystine and methionine in blood and urine due to the deficiency of Cystathionine B synthetase which catalyses the conversion of homocystine and serine into cystathionine

⏫ Raised cystine levels reduce the resistance of endothelium against thrombosis, reduces the activity of the vasodilator nitric oxide (NO) and increase platelet aggregation. So there is high incidence of thromboembolism. We have to ensure good hydration, good cardiac output,early mobilisation and should provide mechanical +/- pharmacological thromboprophylaxis. Many patients will be on anticoagulation. If untreated 50% of patients will have thromboembolic complications and the mortality is about 20% before the age of 30 years.  So both modification of the dosing of anticoagulants ( especially if regional anesthesia is planned) if patient is receiving them and providing prophylaxis against DVT are important elements of perioperative care. The incidence of thrombotic complications are more in pregnant patients. 

⏫ Blood viscosity and platelet adhesiveness can be reduced by dextran, and the prior administration of pyridoxine

⏫ Reduced cystine results in weak collagen and fragmentation of elastic tissue of large arteries. There is high incidence of vascular diseases like Cerebrovascular diseases, Coronary Artery Disease, Peripheral Vascular Diseases

⏫ Patients may have increased insulin levels resulting in hypoglycemia. Dextrose infusion will prevent hypoglycaemia.

⏫ Acute psychiatritc symptoms, delirium etc have been reported and the altered availability of homocysteine, methionine and cystiene which are having glutamate agonist properties, has been postulated as a factor which promotes this.

⏫ Regional anaesthesia has certain theoretical disadvantages. Penetration of a large epidural blood vessel might initiate thrombosis, as may the accompanying venous stasis of the lower limbs.

Reference: ANAESTHESIA DATABOOK, A Perioperative and Peripartum Manual, 3RD EDITION

Rosemary Mason

#anaesthesia , #dvt , #biochemistry ,