A plain English, community focused review of:-

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

By Alan (Mac) MacNicoll

Introduction

The above peer-reviewed medical paper published in 2020 in the Orphanet Journal of Rare Diseases was written by 35 authors from Italy who collectively have unprecedented experience of diagnosis and treatment of patients with Poland Syndrome (PS). Their specialisms included clinical and molecular geneticists, paediatricians, plastic, chest and hand surgeons, psychologists, radiologists and physical therapists, who aimed to formulate best practice recommendations for diagnosis and treatment of PS. They reviewed the medical and scientific literature by searching for diagnosis and treatment of PS in databases of medical and scientific papers and as a panel of experienced practitioners expressed their opinion on the value and strength of information found. This is undoubtedly the most comprehensive publication available on diagnosis and recommendations for treatment of PS – but it is written by medical professionals for other medical professionals and is pretty much incomprehensible to the wider community.

I have PS and also had a 40 year career as a research biochemist and on occasions worked alongside and in collaboration with medical professionals. During that time I learnt to understand their language and published my own scientific papers on several research projects. I have attempted to use my experience to write this “plain English” review of a complex medical publication and provide an accessible report on diagnosis and treatment of PS.

Where possible I have used the authors’ own words in quotes with my explanation of medical terms in [brackets] and italic script. Please understand that English is not the first language of the authors and I have (mostly) resisted the temptation to anglicise the construction of sentences.

Alan (Mac) MacNicoll

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

General Introduction by the authors

This project was undertaken on behalf of the Italian Association of Poland Syndrome (AISP), a non-profit organization supporting clinical, social and scientific activities for the benefit of persons affected by Poland syndrome (PS), with the aim of providing best-practices recommendations for the management of affected individuals. This work is based on searches of peer-reviewed scientific literature combined with the personal experience of the authors who are familiar with PS and come from different areas of expertise.

PS is a disorder in which affected individuals are born with missing or underdeveloped muscle and bone on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities varies considerably among affected individuals. People living with PS usually face a diagnostic “odyssey” undergoing multiple radiological [e.g. X-ray], clinical and genetic tests, which are not always suitable.

As described by English surgeon Sir Alfred Poland in 1841 people with PS typically have an absent or underdeveloped pectoral [upper chest] muscle on one side of the chest. Other muscles may also be effected and in some cases ribs and breast bone. A sub-group of people with PS have changes in the arm and hand on the same side as the missing muscle and again there is wide variance in their severity and impact. In the absence of effects on bones the impacts of PS on health are “trivial or minor” and may go unnoticed for many years. “In a minority of cases” there are kidney or lung malformations and the heart may be positioned on the right side of the chest. The causes and development of PS remain uncertain.

Methods

There is a short description of the methods employed in their research, which is important to demonstrate the planning and quality of their work but is not essential for our understanding of the results and recommendations. The strength of evidence in the medical literature for each recommendation was graded either Strong or Modest, and if there was no evidence found the recommendation was graded as “Good Clinical Practice”. Each of the 35 authors was asked to agree or disagree with each recommendation and the Consensus figure in the tables is the percentage who agreed.

Results

Diagnosis

In the absence of a genetic test for PS, diagnosis is based on clinical examination and recognition of signs or symptoms of PS and other congenital [from birth] syndromes. The presence of any obvious differences in the appearance or structure of an arm or hand or rib cage at birth should lead the clinicians to look for signs of PS and similar conditions.

There then follows a series of tables with recommendations for diagnosis of PS in all of its different forms in each individual. I have taken the approach of selecting those recommendations that are potentially relevant to someone with PS or the relatives of someone (possibly a child) with PS.

Table 1 Recommendations for diagnosis of PS (major complication)

	Grade	Consensus (%)
R1.1 Major complications are related to the severity of chest and arm/hand defects	Strong	86.7
R1.2 Aesthetic problems can raise serious psychological issues for patients and their parents. These issues may be of different severity according to gender and the education level.	Strong	100
R1.3 After the diagnosis of PS, ultrasound examination of structural anomalies of kidney, heart and chest should be carried out	Modest	100

Table 2 Recommendations for diagnosis of PS (principal diagnostic criteria)

	Grade	Consensus (%)
R2.4 The principal diagnostic criteria for PS is the absence of, or reduction in size of, the pectoral [upper chest] muscle on one side only	Strong	93.8
R2.5 The diagnosis is made through the physical examination of the patient; an ultrasound scan of the pectoral muscle is important but not strictly necessary for the diagnosis	Strong	92.9
R2.8 Many variable signs or symptoms may be detected but we cannot diagnose PS in the absence of the basic diagnostic criterion – i.e. changes to the pectoral muscle on one side	Strong	92.9

Table 3 Recommendations for radiological examination

	Grade	Consensus (%)
R3.10 Ultrasound examination should be the primary, and possibly only, imaging tool required to confirm a diagnosis of PS because it is widely available, cost effective and does not expose the patient to radiation.	Strong	92.3
R3.15 Magnetic Resonance Imaging (MRI) is probably not useful even when ultrasound imaging is inconclusive	Modest	77.8
R3.16 Radiography [e.g. x-ray] should be used for gross examination of the chest and heart	Strong	88.9
R3.17 – R3.23 Different forms of imaging are not always necessary for the diagnosis of PS, however they may be helpful for planning of surgery	Modest – Strong	62.5 – 100

Table 4 and associated text and photographs provide a detailed technical protocol for an ultrasound technician to compare chest structure, on both sides, to confirm a diagnosis of PS.

Table 5 and further text relates to “differential diagnosis”, which is the process of differentiating between two or more conditions (syndromes) which share similar signs or symptoms. It is likely that some members of our community will, unfortunately, have a combination of syndromes but these are quite rare even within in a rare disease environment.

Communicating the diagnosis

“The diagnosis of PS is arrived at in most cases within the first year of life. It is often communicated to parents who are unaware of the presence of the disorder. As for any newborn with congenital anomalies the diagnostic pathway and process should be communicated to the parents by explaining that the waiting time is necessary to receive the results of all requested investigations for an accurate evaluation.”

Table 6 Recommendations for communicating the diagnosis

	Grade	Consensus (%)
R6.28 In the communication of the diagnosis it is important to underline that PS is not a progressive condition and is not associated with abnormal development of the brain or movement	Strong	92.9
R6.29 In cases without severe chest malformation, the communication of the diagnosis should include a statement on the survival rate, which is comparable with the general population.	Strong	100
R6.31 The communication of the diagnosis should be made in the presence of a psychologist. If the psychological support is not available at the time of the diagnosis then external psychological support should be advised.	Strong	90.9

Table 7 Recommendations for genetic counselling

	Grade	Consensus (%)
R7.33 At the moment, PS is considered a “sporadic” disorder and recurrence within families is really exceptional. Therefore, general counselling for families with a previously affected child or for affected adults with negative family history should be reassuring concerning the low chance of recurrence in a future pregnancy.	Strong	100
R7.37 As PS is a congenital [from birth] disorder, genetic counselling is recommended in all cases	Good Clinical Practice	100

Surgical treatments and specific medical therapies of major symptoms

In common with other congenital malformation syndromes there is no definitive solution to treat PS as a whole, however, surgical treatment of the major abnormalities and medical complications are appropriate and do not differ from those applied to other similar isolated malformations in the general population.

Table 8 Recommendations for thoracic [chest] surgery

	Grade	Consensus (%)
R8.38 Respiratory symptoms are not common in PS patients. Lack of protection of lungs and other organs due to the rib cage defects does not necessarily indicate a need for radical chest surgery during childhood.	Strong	57.1
R8.40 Conservative methods such as vacuum bell or medical corsets/braces are promising tools to treat concave or convex chest anomalies in young, growing, patients	Strong	100
R8.44 Early evaluations of patients optimizes the treatment and is better for psychological reasons.	Modest	100
R8.45 In selected cases, 3D printing and new technologies can be helpful to build artificial bones custom made for e.g. rib cage reconstruction.	Strong	100
R8.46 Combined surgical treatment (chest reconstruction and plastic surgery) can reduce the number of surgical procedures.	Strong	100

“Regarding the best age for surgery, it is usually not necessary to operate on the patients before 12-13 years of age. Ideally, thoracic [chest] reconstruction [should be carried out] around 14-15 years of age when chest growth is already advanced”.

Hand surgery

Reconstructive hand surgery may be required in some patients with PS. The authors recommend classifying the extent of the hand anomalies on a scale of 1-8:

I No hand/arm anomalies

2 Small but functional hand

3 5 functional digits but some bone fusion and/or skin webbing

4 Less than 5 functional digits

5 Absent or non-functioning digits

6 As 5 above with fused bones in the wrist and forearm

7 As 5 above with a high shoulder blade

8 Other anomalies.

Table 9 Recommendations for hand surgery

	Grade	Consensus (%)
R9.47 It is mandatory to check all of the arm in order to identify any malformations (shoulder, elbow) associated with hand anomalies	Strong	100
R9.48 Reconstructive surgery planning should be adapted to the type of anomaly of the hand	Strong	100
R9.49 The correction of syndactyly [category 5 above] should begin between 12 and 24 months of life; if the first web space [between first and second fingers] is involved, surgery should be performed between 6 and 12 months.	Strong	100
R9.50 If digits are absent then toe transplant should be offered to the parents	Strong	100
R9.54 Types 1 and 2 do not need any surgical treatment, which is necessary for type 3 and, in particular, for types 4 and 5, to improve hand function	Strong	100
R9.55 The reconstruction of the second and third web spaces can be delayed until 18 months of age without adverse effect on hand function or fine motor development	Strong	100

Plastic Surgery

“Reconstructive surgery in PS has a mainly aesthetic meaning and it aims to improve quality of life. The asymmetry involving the breasts, in fact, is often moderate or severe and it is made even more complex by the underlying thoracic [chest] malformations. Social aspects in case of bodily malformation cannot be ignored, both for male and female patients. A single defect, in fact, can affect the overall physical appearance to create a variable degree of uneasiness in social relations. Patients affected by PS seem to experience high level of body uneasiness during adolescence. The reconstructive path, for this reason, can start during puberty and it depends strictly on the characteristics of the mammary / thoracic [chest] malformation, on the anatomical characteristics of the patient and on the psychological condition linked to the malformation.”

“Muscle transpositions [re-positioning back muscles to the chest] should be used in selected cases after an accurate evaluation of the pros and cons of the procedure based on the anatomical characteristics (back, shoulder, posture, …) and life habits (sport activity, work activity, hobbies, …) of the patient. Muscle transpositions shouldn’t be used in non-adult patients, or even in patients who have not fully completed their psycho-physical development and who have not clearly outlined their social and working life habits. Reconstructive surgery can help especially younger patients (teenagers) to have a less traumatic experience [of] the aesthetic stigmata accompanying them on a path of growth and positive development of their body image. Soft tissue reconstructive surgery cannot be definitive; breast, muscles and adipose tissue involved in the malformed feature are tissues in continuous evolution based on age, physiological changes (pregnancy) and life habits and, for this reason, it may be necessary to rework them over time to maintain the desired aesthetic result.”

Table10 Recommendations for plastic surgery

	Grade	Consensus (%)
R10.60 Reconstructive plan should be the least invasive and debilitating for the patient given the main aesthetic purpose of the reconstruction	Strong	90
R10.61 Autologous [self] fat graft should be the first surgical procedure but it is strictly dependent on the grade of anomalies, Body Mass Index and chest wall involvement	Strong	62.5
R10.62 Breast implants are the simplest solution to correct missing breast volumes	Strong	100
R10.63 The breast on the unaffected side should be reworked as little as possible, especially in young women who have not given birth	Modest	100
R10.65 Muscle transpositions [repositioning from the back to the chest] should only be used in strictly selected cases after an accurate evaluation of the pros and cons of the procedure based on the anatomical characteristics (back, shoulder, posture, …) and life habits (sport activity, work activity, hobbies, …) of the patient.	Modest	100
R10.66 Transpositions of muscles to the chest shouldn’t be used in non-adult patients, nor patients who have not fully completed their psycho-physical development and who have not clearly outlined their social and working life habits.	Strong	100

Table11 Recommendations for physical therapies

	Grade	Consensus (%)
R11.67 It is important to monitor spinal and chest symmetry during growth	Strong	100
R11.68 It is recommended to monitor movement in the shoulder joint	Modest	100
R11.69 It is recommended to monitor and compare development of the muscles of both arms.	Modest	100

Psychological issues and social assistance

“Currently, there is no scientific literature on psychological support for patients, and their families, suffering from PS (Table 12). In contrast, clinical practice highlights the importance of psychological support for the patient and his/her family. Furthermore, the psychologist appears to be an important resource also within the multidisciplinary specialist team both for drafting the protocols for taking charge and for supporting colleagues during the various stages of the diagnostic, care and assistance process.”

“Since the syndrome is increasingly diagnosed at birth, psychological support must first be directed to parents to explain possible painful experiences that could affect the attachment and care of the child to help reinforce parenting skills. Subsequently, as the child reaches more and more autonomy, the support is necessary both for the parents and for the subject themself to avoid developing feelings of inadequacy and consequent socialization problems.”

“About the choice to undergo surgery, especially in adolescence, it is useful that the decision is reached with the help of the psychologist, after assessing the subject’s psychological conditions, in full awareness and self-determination so that the result is satisfactory. It is not recommended to take the intervention exclusively on the advice of medical specialists.”

“When the diagnosis is made in late adolescence or adult age, a psycho-diagnostic evaluation is strongly recommended to check how the anomalies caused by the syndrome have affected the subject’s life, self-image and relationships with others. The request for correction of anomalies must be carefully considered and examined in depth to exclude unrealistic and unrealizable expectations.”

Table12 Recommendations for psychological support

	Grade	Consensus (%)
R12.74 A psychological evaluation is recommended before reconstructive surgery related to chest and/or mammary deformity.	Good Clinical Practice	100
R12.75 Psychological support is fundamental from the time of diagnosis of PS to avoid feelings of imperfection or difference.	Good Clinical Practice	100
R12.76 To fully explain the diagnosis and support good parenting.	Good Clinical Practice	100
R12.77 We recommend a preliminary assessment of psychological condition in adolescent patients, to guide self- consciousness and knowledge of individual needs in order to reach self -determination about any surgical operation.	Good Clinical Practice	100
R12.78 We recommend prior assessment of psychological condition in adult patients, to help in accepting the condition and “to face up to” the associated consequences, including surgical treatment or therapy.	Good Clinical Practice	100
R12.79 The psychologist is an important resource for the entire multidisciplinary team during the diagnostic, care and assistance process, helping to build the best path for the specific situation (for example, for the communication of the diagnosis).	Strong	100

Clinical follow-up and general management

“Following the diagnostic classification, people affected with PS are monitored by periodic follow-up visits to manage the main complications of the disease, such as functional and aesthetic issues [abnormalities of the arm, unusual or unexpected movements of the chest wall, reduced lung function, muscle weakness, curvature of the spine].”

Since in some, rare, PS cases there may be malformations such as missing or misplaced kidney(s), undescended testicle(s), heart on the right side of the chest or heart valve defects, it is advised to perform relevant specialist assessments at an appropriate time.

It is considered to be Good Clinical Practice to periodically monitor breast implants.

Table13 Recommendations for clinical follow-up

	Grade	Consensus (%)
R13.80 Chest surgery in children has to be planned and performed by paediatric surgeons	Strong	100
R13.81 The role of the paediatric surgeon includes: evaluation of chest symmetry, assessment of anomalies of the ribs, evaluation of the breast-bone, long-term follow-up and possible surgical treatment.	Strong	100
R13.82 The following evaluations should be planned for each newly diagnosed patient under 18 yrs of age: clinical evaluation by paediatric chest surgeon, chest x-ray, evaluation of the heart with ultrasound, genetic counselling, orthopaedic evaluation, plastic surgeon evaluation for pre-adolescents and teenagers, abdominal ultrasound	Strong	87.5
R13.83 We recommend for child patients a preliminary assessment of psychological condition, to guide the adequate development of body image and to prevent inferiority feelings.	Good Clinical Practice	100

Table 14 Recommendations for clinical follow-up

	Grade	Consensus (%)
R14.84 Annual follow-up (medical examination and ultrasound) of surgery is recommended, especially in cases of reconstruction with breast or pectoral implants.	Strong	100
R14.85 Provide adequate explanations about the need to perform more or less invasive surgical adjustments to maintain the symmetry between the two sides of the body in relation to physiological changes e.g. puberty	Good Clinical Practice	100
R14.86 The patient with PS need to be assisted by a multidisciplinary team (coordinated by a Case Manager) tailored on the basis of the real needs of the patient/family. In general the team should involve the following specialists: Paediatric chest surgeon, plastic surgeon, orthopaedic surgeon, hand surgeon, radiologist, geneticist, psychologist, cardiologist, ophthalmologist, and other professionals as needed.	Strong	100
R14.87 A strong relationship with Patients Advocacy Organizations, both national and international ones, is crucial for the best care of patients with PS	Strong	100
R14.88 If there are not any functional limitations there is no need for surgery but patients could decide to undergo surgery for aesthetic reasons.	Strong	70

Conclusions

“To conclude, this report is based on the personal opinion of experts based on the best available evidence and provides recommendations for the options of diagnosis and treatment of PS patients, in order to improve the outcome for those affected. It will now be important to extend the discussion and the acceptability of our recommendations to a wider community of clinicians and families: a large international meeting on PS is expected to be scheduled in 2021 under the direct management of the AISP (Italian Association of Poland Syndrome). In fact, one of the main purposes of the AISP is to improve the care and follow-up of people living with PS. For this reason the AISP has recently developed, in close collaboration with some clinical centres for the treatment of PS in Italy, the first registry for PS available in the world. The registry of PS is a tool for the systematic collection of personal and phenotypic data of affected people. Through the digitalization of high-quality clinical data, the registry aims to improve knowledge of PS and maximize natural history and epidemiologic studies.”

The point of view of patients and caregivers

“The purpose of AISP has always been to enhance the network of specialists and medical facilities who collaborate with each other in order to allow the best possible care for patients on the Italian territory. Thanks to the drafting of this document, AISP took one important step closer to reach this aim and hope to provide clinicians and patients diagnostic and therapeutic approaches in PS as uniform as possible. AISP will surely advertise this report on its website and its social channels. This document will be shared with other European associations of PS patients and rare disease associations in Italy and in Europe and with the ERN of rare diseases. With the help of the clinicians involved in the draft, the document will be distributed to scientific society, medical structures, general practitioners and paediatricians, asking them to collaborate in its sharing. Moreover an informative brochure will be produced in order to enable patients to fully understand the document. The update of these recommendations will be promoted by AISP as part of its constant scientific activity and will be an integral part of the scientific program of AISP National Conferences.”

Table15 General recommendations

	Grade	Consensus (%)
R15.89 Our knowledge of epidemiology of PS should be improved	Strong	100
R15.90 The precise cause of PS is not known yet: further studies are urgently needed to find the reasons why PS occurs but research should also be focussed on the development of PS	Strong	100
R15.91 Standardization of protocols on a national and international basis is needed	Strong	100