[MIM 203 500]

(Hereditary ochronosis)

Rare.Abnormal metabolisation  of phenylalanine and tyrosine. Autosomal recessive transmission of a mutation of the HGD gene (3q13.33). This produces a deficiency in homogentisate 1,2 dioxygenase resulting in an accumulation of homogentisic acid. This acid is eliminated in the urine (urine becomes brown-black when exposed to light) but also accumulates in the form of an oxidized pigment (benzoquinone acetic acid) in many tissues such as:

-        joints: early arthritis and/or osteoarthritis of the  large joints and the vertebral axis: pain, stiffness, progressive ankylosis, dense calcifications

-         skin: blue-gray pigmentation of the  sclerae after the age of 30, bluish pigmentation  of the helix and the palms of the hands

-        the kidneys: lithiasis

-        heart: blackish coloration of vascular walls of the heart valves (adult).

-        laryngeal and tracheal cartilages: dysphagia, hoarseness

Experimental treatment: low doses of nitisinone  (< 2 mg/d)

Anesthetic implications:

for the adult patient, a neuraxial block can be difficult due to a decreased mobility of the vertebrae. Measurement of transcutaneous cerebral/tissular saturation in oxygen (NIRS) can be difficult: devices using multiple wavelengths (b.e. Equanox&®) are less influenced than devices relying on two wavelengths only (b.e. INVOS&®). Higher risk of headache after spinal anesthesia due to increased fragility of the dura mater and the arachnoid due to their infiltration by benzoquinone acetic acid ?

References : 

-         Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. 
Natural history of alkaptonuria. 
N Engl J Med 2002; 347: 2111–21.

-         Argiriadou H, Anastasiadis K, Antonitsis P, Kanyamimboua D et al. 
The inability of regional oxygen saturation monitoring in a patient with alkaptonuria undergoing aortic valve replacement.  
J Cardiovasc Thorac Anesth 2009; 23: 586-8.

-         Pandey R, Kumar A, Grg R, Khanna P, Darlong V. 
Perioperative management of patient with alkaptonuria and associated multiple comorbidities. 
J Anaesth Clin Pharmacol 2011; 27: 259-61

-         Ladjouze-Rezig A, Aquaron R. 
Alcaptonurie, ochronose et arthropathie ochronotique. 
Revue du Rhumatisme (Monographies) 2011 ; 78 : 231-8.

-         Kastsiuchenka S, Mikulka A. 
Anaesthesia and orphan disease : a patient with alkaptonuria. 
Eur J Anaesthesiol 2013; 30: 779-80. 

-        Kovac P, Mis K, Pirkmajer S, Mars T et al.
How to measure tissue oxygenation using near-infrared spectroscopy in a patient with alcaptonuria.
J Cardiothor Vasc Anesth 2018; 32: 2708-11.

Updated: September 2021