
==== Front
Anaesth Rep
Anaesth Rep
10.1002/(ISSN)2637-3726
ANR3
Anaesthesia Reports
2637-3726
John Wiley and Sons Inc. Hoboken

10.1002/anr3.12325
ANR312325
ANR3.2024.00226
Clinical Report
Clinical Report
Peri‐operative considerations for a pregnant patient with Werner syndrome and pre‐eclampsia
Patient with Werner syndrome and pre‐eclampsia
Fallon et al.
Fallon F. https://orcid.org/0000-0003-4481-0796
Specialty trainee 1 ffallon@tcd.ie

Byrne B. Consultant 2
Lynch C. Consultant 2
Popivanov P. Consultant 3
1 Department of Anaesthesia St James's Hospital Dublin Ireland
2 Department of Obstetrics and Gynaecology The Coombe Hospital Dublin Ireland
3 Department of Perioperative Medicine and Anaesthesiology The Coombe Hospital Dublin Ireland
* Correspondence to: F. Fallon
Email: ffallon@tcd.ie

17 9 2024
Jul-Dec 2024
17 9 2024
12 2 10.1002/anr3.v12.2 e1232527 8 2024
© 2024 The Author(s). Anaesthesia Reports published by John Wiley & Sons Ltd on behalf of Association of Anaesthetists.
https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

obstetric anaesthesia
peri‐operative medicine
Werner syndrome
source-schema-version-number2.0
cover-dateJuly‐December 2024
details-of-publishers-convertorConverter:WILEY_ML3GV2_TO_JATSPMC version:6.4.8 mode:remove_FC converted:17.09.2024
1 Specialist trainee, Department of Anaesthesia, St James's Hospital, Dublin, Ireland

2 Consultant, Department of Obstetrics and Gynaecology, The Coombe Hospital, Dublin, Ireland

3 Consultant, Department of Perioperative Medicine and Anaesthesiology, The Coombe Hospital, Dublin, Ireland
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pmcWerner syndrome was first described by Otto Werner in 1904 [1]. It is a rare autosomal recessive syndrome caused by a mutation of the RecQ type DNA/RNA helicase on the WRN gene resulting in accelerated ageing [1, 2]. Due to infertility and gonadal failure, the majority of female patients with Werner syndrome do not become pregnant. If pregnancy does occur, it can pose challenges for the anaesthetist.  Typical features include premature greying and hair loss, loss of subcutaneous adipose tissue, muscle wasting of the limbs, central adiposity, a ‘bird‐like’ face, short stature and a classic high pitched voice. Age‐related systemic disorders include type 2 diabetes mellitus, osteoporosis, atherosclerosis, cataracts, thyroid disease, vocal cord paralysis and malignancy. A full list of features is shown in Table 1. Severe forms of arteriosclerosis and atherosclerosis are common in all patients with Werner syndrome. Myocardial infarction is the leading cause of death, followed by malignancy. Over 50% of patients with Werner syndrome present with myocardial infarction, angina pectoris, stroke or hypertension before the age of 40 [2]. Case reports describe on‐table cardiac arrest secondary to aortic stenosis and severe calcification of coronary vessels during a caesarean birth in a patient with Werner syndrome, and a caesarean birth performed for exacerbation of coronary symptoms and signs of cardiac insufficiency [3, 4]. Mortality usually occurs in the fourth or fifth decade and the physiological age of a patient with Werner syndrome may be greater than their chronological age. Therefore, consideration should be given to the choice and dose of medications administered. A difficult airway should be anticipated due to the craniofacial abnormalities which affect 98% of patients with Werner syndrome including small mouth, mandibular and maxillary hypoplasia. Difficult intravenous access should also be anticipated due to scleroderma‐like skin changes which affect 96% of patients with Werner syndrome [5]. Anaesthetic techniques for pregnant patients with Werner syndrome should be decided on a case‐by‐case basis with thorough pre‐operative investigations and multidisciplinary team discussion.

Table 1 Pathognomonic features of Werner syndrome.

Pathognomonic features of Werner syndrome	Presence of feature in this case	
General appearance and body habitus	
Small stature	✓	
Low BMI	✓	
Grey hair	✓	
Wrinkled face	✓	
‘Bird‐like’ facial shape	✓	
Thin extremities	✓	
Central adiposity	✓	
Musculoskeletal	
Receding mandible	✓	
Osteoporosis	✓	
Cardiac	
Hypertension	✓	
Coronary artery disease	*	
Atherosclerosis	*	
Arteriosclerosis	*	
Dermatological	
Dry skin	✓	
Chronic non‐healing ulcers, often at the olecranon	✓	
Otolaryngological	
‘Classic’ hoarse, high pitched voice	✓	
Vocal cord paralysis	✓	
Presbyphonia	✓	
Ophthalmic	
Cataracts	✓	
Endocrine	
Diabetes	×	
Gestational diabetes	✓	
Thyroid disease	✓	
Parathyroid disease	✓	
Reproductive health	
Infertility	×	
Failure to develop secondary sexual characteristics	×	
Miscarriages	✓	
Cervical incompetence in pregnancy	×	
Malignancy	
Thyroid neoplasm	×	
Malignant melanoma	×	
Soft tissue sarcoma/osteosarcoma	×	
Haematological/ lymphoid	×	
✓, present; ×, not present; *, unknown.

A 34‐year‐old gravida 2, para 0 woman with Werner syndrome was reviewed at the anaesthetic pre‐operative assessment clinic at 24‐week gestation as part of her antenatal care with the high‐risk medical team. She had been diagnosed with Werner syndrome in her 20s, having initially presented with non‐alcoholic hepatic steatosis. Genetic studies had confirmed homozygosity for the pathogenic variant c3961C>T (p.Arg1321Ter) in the WRN gene. She had a number of typical features of Werner syndrome (Table 1). Of particular note was her history of dysphonia, a glottic gap, right vocal cord paralysis and partial left vocal cord paralysis. Her regular medications were levothyroxine 75 μg and labetalol 100 mg daily for hypothyroidism and essential hypertension, respectively. New onset exertional dyspnoea developed at 24‐week gestation, which was investigated with transthoracic echocardiography. This showed an ejection fraction of 55% (compared to 65% 5 years previously). Systolic and diastolic ventricular function were normal. Mild sclerosis of the aortic valve without regurgitation or stenosis was reported. A sigmoid septum was observed, which was new. This is a benign feature of ageing that would be unusual for someone in their 30s. Previous microlaryngoscopy revealed her significant dysphonia was due to a glottic gap, right vocal cord paralysis and partial left vocal cord paralysis. The otolaryngology team had listed the patient for a staged injection thyroplasty but delayed this elective procedure until after the pregnancy. A glucose tolerance test at 28‐week gestation was strongly positive, and insulin therapy was commenced. At 30‐week gestation, the patient was admitted to her local hospital following an episode of hypoglycaemia and was noted to be hypertensive without proteinuria. She was admitted to our hospital for closer monitoring where her insulin doses were reduced. Serial growth scans and fetal monitoring were reassuring.

Neuraxial anaesthesia was deemed safe due to adequate cardiac function on echocardiogram. We also wanted to avoid general anaesthesia and intubation because of potential airway complications. At 34‐week gestation, while still an inpatient, the decision was made to proceed with caesarean birth due to derangement of liver function tests and rising blood pressure, initially treated with labetalol 200 mg twice and 10 mg of nifedipine orally. A category 2 caesarean birth was performed uneventfully in daytime hours under spinal anaesthesia. Postoperatively the patient was admitted to the high‐dependency unit for monitoring. She remained stable and returned to her baseline labetalol therapy. She was discharged to ward level care 2 days later and the rest of her postoperative period was uneventful.

Patient's perspective: ‘I am very grateful for the care that I received during my pregnancy. I was so excited because having a baby was something I dreamed of for so long. On the morning of my section I had a headache which was a bit scary. Everyone was around the bed to look after me and I knew me and my baby were in good hands. I remember worrying that my partner wouldn't get in on time but luckily he did. I know I went to theatre but a lot of my memory after that is blurry. Mostly, I just remember feeling very very sleepy. I am very happy everything went ok. Sometimes I get very tired during the day but for me it's worth it’.

Acknowledgements

This report was published with the written consent of the patient. No external funding and no competing interests declared. Open access funding provided by IReL.
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References

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2 Goto M . Werner's syndrome: from clinics to genetics. Clin Exp Rheumatol 2000; 18 : 760–766.11138345
3 Hurtarte Sandoval AR , Penate Dardón JD , Flores Robles BJ , Porres S . Werner's syndrome: incidental finding during pregnancy. BMJ Case Rep 2013; 2013 : bcr2013200931.
4 Torbé A , Czajka R , Gutowska‐Czajka D , et al. Successful outcome of pregnancy complicated by Werner's syndrome. J Matern Fetal Neonatal Med 2010; 23 : 1056–1058.19895352
5 Takemoto M , Mori S , Kuzuya M , et al. Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. Geriatr Gerontol Int 2013; 13 : 475–481.22817610
