dyskeratosis congenita ( dc ) is an inherited disorder with progressive multi - system involvement leading to bone marrow failure ( bmf ) , squamous cell carcinoma , pulmonary fibrosis ( pf ) , etc .
liver transplantation ( lt ) for cirrhosis secondary to dc has not been reported previously and we describe here the perioperative management of the same .
a patient with diagnosed dc at 25 years of age presented with esld to our institute in his 34 year .
past history included haematopoietic stem cell transplant ( hsct ) for bmf secondary to dc .
patient was diagnosed with cirrhosis post - hsct and was kept on medical management for 9 years . at the time of presentation he was not on any immunosuppressant .
clinical examination revealed multiple dental caries , reticulate skin pigmentation , nail dystrophy , severe clubbing , epiphora , enlarged liver with irregular margins , splenomegaly and ascites .
pre - operative liver function tests showed hypoalbuminemia ( 2.6 g / dl ) with slightly elevated transaminases .
on arterial blood gas ( abg ) analysis , partial pressure of oxygen ( pao2 ) was 51.3 mm hg with widened alveolar arterial oxygen gradient ( pao2pao2 = 59.7 mm hg ) [ table 1 ] .
abg with 100% o2 supplementation demonstrated an increased pao2 ( 158 mm hg ) and spo2 of 100% [ table 1 ] .
arterial blood gas values at various time points high resolution computerized tomography ( ct ) demonstrated mild bilateral interstitial lung disease ( ild ) [ figure 1 ] .
saline contrast echocardiography ( sce ) suggested severe right to left intrapulmonary shunting and macroaggregated albumin scan ( maa ) demonstrated a 21% shunt fraction .
child - turcotte - pugh score was 10 ( child c ) and model for end stage liver disease score was 14 . patient was diagnosed with cirrhosis secondary to dc and posted for urgent living donor liver transplantation ( ldlt ) .
high resolution computerized tomography thorax showing mild bilateral interstitial lung disease apart from standard anaesthesia monitoring , invasive haemodynamic monitoring ( central venous pressure , invasive arterial blood pressures and continuous cardiac output monitoring using flowtrac ev1000 edwards life sciences ) were used .
anaesthesia was induced with propofol ( 1.5 mg / kg ) , fentanyl ( 1.5 gm / kg ) , and rocuronium ( 0.9 mg / kg ) with modified rapid sequence induction .
maintenance of anaesthesia was with isoflurane in air ( minimum alveolar concentration 11.2 ) , with infusions of atracurium and fentanyl .
baseline abg after induction of anaesthesia showed pao2 of 140 mm hg with fio2 of 0.5 .
persistent svv > 13% in absence of sustained major vascular occlusion or arrhythmias was treated with 250 ml boluses of 5% albumin .
noradrenaline and vasopressin infusion were titrated for a targeted mean blood pressure > 65 mm hg .
after reperfusion , fio2 requirements increased from 0.5 to 0.7 to maintain the pao2 above 100 mm hg . estimated blood loss during the surgical procedure was 2100 ml .
patient was gradually weaned from mechanical ventilation and vasopressors and extubated on post - operative day 2 in the intensive care unit .
post - extubation intermittent non - invasive bilevel positive airway pressure ( bipap ) support was provided .
immunosuppression was provided with steroids , tacrolimus and mycophenolate . on post - operative day 7 , patient developed tachypnoea , increased o2 requirement , fever and productive cough .
chest auscultation revealed bilateral basal crepitations and basal lobe consolidation on chest x - ray .
oxygen requirements were increased and were provided via high concentration o2 mask with reservoir bag to maintain acceptable levels of saturation .
on availability of sputum culture reports ( culture demonstrated escherichia coli sensitive to carbapenems ) , patient was shifted from broad spectrum empirical antibiotics to culture specific antibiotics and patient gradually improved with decrease in oxygen requirements .
patient was discharged from the hospital on post - operative day 29 with a pao2 of 70 mm of hg on room air , which at 2 months was 78 mm of hg .
dyskeratosis congenita is a rare multisystem disorder characterized by the triad of abnormal skin pigmentation , nail dystrophy and mucosal leucoplakia .
patients exhibit considerable clinical and genetic heterogeneity with x - linked recessive , autosomal dominant and recessive forms .
bone marrow failure and pf are the most common causes of mortality(6070% for bmf/15% for pf ) in these patients .
hsct is the only curative option for bmf but increases the risk of pulmonary complications .
hepatic involvements including hepatomegaly , hemosiderosis , fibrosis , and cirrhosis have been reported in 10% of cases .
presence of severe hypoxemia and orthodeoxia and absence of ild led to a probable diagnosis of hepatopulmonary syndrome ( hps ) .
imbalance between vasoconstrictors and vasodilators leading to pulmonary vascular dilatation at the pre - capillary and capillary level in patients with liver disease results in hps .
subsequent intrapulmonary shunting and v - q mismatch causes progressive hypoxia , dyspnoea , and cyanosis .
the patient reported here was fulfilling the criteria for hps : ( 1 ) chronic liver disease ( cld ) , ( 2 ) alveolar - arterial oxygen gradient > 15 mm of hg and intrapulmonary shunt ( demonstrated by sce and maa ) .
severe intrapulmonary shunting ~21% and pao2 of 51.5 mm of hg on room air placed him in almost the very severe category of type i hps .
lt being a definitive treatment for hps and severity of hypoxaemia limiting time for medical therapy trial , lt was offered to the patient on an urgent basis .
the prevalence of hps in patients with advanced liver disease is approximately 1633% . without lt the 5 years survival rate for cirrhotic patients with hps
however , more recently gupta et al . in their study have reported a mortality rate of 9% in patients with severe hps in peri - transplant period .
it has also been demonstrated that severity of pre - operative hypoxaemia correlates with the peri - transplant mortality .
rapid progression of pre - operative hypoxaemia in these patients mandates minimal transplant waiting time .
ldlt reduces transplant waiting time and prevent functional status deterioration and thus provide good results in patients with severe hps .
the low acceptable thresholds of pao2 values were kept keeping in mind pre - operative severe hps and hypoxaemia .
restrictive fluid therapy using svv along with lung protective ventilation strategies ( low tidal volume ) were used to minimize pulmonary complications .
other supportive therapies like o2 supplementation , incentive spirometry , intermittent non - invasive ventilatory support , adequate attention to asepsis and antibiotics were provided as per institute 's protocol .
hps can be an important cause of hypoxemia in patients of dc presenting with cld . directed pre - operative evaluation to determine the primary cause of hypoxaemia can help in identifying patients who may benefit from lt .
 dyskeratosis congenita ( dc ) is an inherited disorder with progressive multisystem involvement . 
 end stage liver disease ( esld ) in patients with dc is rare . 
 we describe the perioperative management of a patient with dc induced esld and severe hepatopulmonary syndrome for living donor liver transplantation . 
INTRODUCTION
CASE REPORT
DISCUSSION
CONCLUSION