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Hernia (2013) 17:183189

DOI 10.1007/s10029-013-1060-4

REVIEW

The inheritance of groin hernia: a systematic review


J. Burcharth H. C. Pommergaard
J. Rosenberg

Received: 9 September 2012 / Accepted: 8 February 2013 / Published online: 20 February 2013
Springer-Verlag France 2013

Abstract
Background Groin hernia has been proposed to be
hereditary; however, a clear hereditary pattern has not been
established yet. The purpose of this review was to analyze
studies evaluating family history and inheritance patterns
and to investigate the possible heredity of groin hernias.
Methods A literature search in the MEDLINE and Embase databases was performed with the following search
terms: genetics, heredity, multifactorial inheritance, inheritance patterns, sibling relations, family relations, and
abdominal hernia. Only English human clinical or registerbased studies describing the inheritance of groin hernias,
family history of groin hernias, or familial accumulation of
groin hernias were included.
Results Eleven studies evaluating 37,166 persons were
included. The overall findings were that a family history of
inguinal hernia was a significant risk factor for the development of a primary hernia. A family history of inguinal
hernia showed a tendency toward increased hernia recurrence rate and significantly earlier recurrence. The included
studies did not agree on the possible inheritance patterns
differing between polygenic inheritance, autosomal dominant inheritance, and multifactorial inheritance. Furthermore, the studies did not agree on the degree of penetrance.
Conclusion The literature on the inheritance of groin
hernias indicates that groin hernia is most likely an inherited disease; however, neither the extent of familial accumulation nor a clear inheritance pattern has yet been found.
In order to establish whether groin hernias are accumulated

J. Burcharth (&)  H. C. Pommergaard  J. Rosenberg


Department of Surgery, Center for Perioperative Optimization,
Herlev Hospital, University of Copenhagen, Herlev Ringvej 75,
2730, DK, Copenhagen, Denmark
e-mail: jakobburcharth@gmail.com

in certain families and to what extent, large register studies


based on hernia repair data or clinical examinations are
needed.
Groin hernia repair (inguinal and femoral hernia) is among
the most commonly performed gastrointestinal surgical
procedures [1]. Emergency groin hernia surgery is associated with increased mortality, increased patient-related
morbidity, and increased hospital stay compared with
elective groin hernia procedures [2, 3]. Identifying patients
at high risk of developing groin hernia would therefore
provide the possibility of timely elective surgical intervention, thus reducing the rate of emergency procedures. It
could also potentially make way for individualized surgical
methods in the future.
Keywords Inguinal hernia  Groin hernia  Risk factor 
Inheritance  Systematic review

Introduction
Earlier proposed risk factors for developing groin hernias
are, for example, male gender [4], old age [5], patent
processus vaginalis [6], low body mass index [7], and high
intraabdominal pressure [8]. Knowledge of systemic collagen diseases, such as cutis laxa [9], Marfan syndrome
[10], and EhlersDanlos syndrome [11], has revealed a
link to hernia formation. In particular, systemic collagen
subtype imbalance [12] and altered extracellular matrix
composition/degradation [13, 14] correlate to increased
occurrence of primary and recurrent hernia. Furthermore,
positive family history (i.e., the presence of hernia in
directly related close family members) has been proposed
as a predictor for development [15] as well as an increased
risk of recurrence of primary hernia [16].

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184

The purpose of this review was to analyze studies


evaluating the impact of positive family history and
inheritance patterns and thereby investigate the possible
heredity of groin hernias.

Methods
Literature search
Using the PRISMA [17, 18] guidelines, a systematic literature search was performed in February 2012 in MEDLINE and Embase. To supply the strategic search, a
reference search in the obtained articles0 reference list was
done, as not all relevant studies are expected to be returned
only by relying on systematic database searches [19].
The aim of the literature search was to identify studies
describing the inheritance patterns of groin hernia and the
impact of positive family history and familial accumulation
of groin hernia.
The literature search in the MEDLINE database utilized
the Advanced Search feature with the following search terms:
genetics, heredity, multifactorial inheritance, inheritance
patterns, sibling relations, family relations, and abdominal
hernia as All Field and MeSH terms. The literature search in
Embase used the Multifield Advanced Search Function with
the same search terms. We did not apply further filtering in
order to enhance the possibilities of the search strategy.

Hernia (2013) 17:183189

Data extraction
The following were extracted from the included studies:
study design, study aims, population (patient material,
number, subgroups, and demographics), hernia type investigated, results, inheritance patterns when possible, risk
estimates (OR/RR in absolute numbers), and study conclusions. Data were extracted directly from the included
studies and discussed by both reviewers. Furthermore,
studies were evaluated for limitations and possible bias.

Results
A total of 1,023 possible studies were identified, and after
doublets were removed, the search strategy resulted in 712
studies possible for inclusion (Fig. 1). After screening of
title and abstract, 30 full-text manuscripts were selected
and assessed for eligibility. After application of study criteria, 11 studies evaluating a total of 37,166 persons
remained, which were included in this systematic review
(Fig. 1). All of the included studies evaluated inguinal
hernias and none evaluated femoral hernias (Table 1).
Seven studies evaluated primary hernias [15, 16, 2024],
whereas the remaining four studies evaluated both primary
and recurrent hernias [2528]. Nine studies determined risk
estimates of a positive family history on the development
of an inguinal hernia. Two studies determined possible
inheritance patterns of inguinal hernias [23, 24].

Study selection criteria


Positive family history (Table 1)
Only human clinical or register-based studies describing
the inheritance of groin hernias, positive family history of
groin hernias, or familial accumulation of groin hernias
were included. Only studies published in English were
considered for inclusion.
The primary study outcome for this review was inheritance patterns of groin hernia. The secondary study outcome was determination of risk estimates odds ratio (OR),
relative risk (RR) of positive family history of groin hernias as a risk factor for groin hernia development. Studies
not evaluating the above mentioned (e.g., studies focusing
on specific gene-finding techniques) and case reports were
excluded. For the study selection process, see Fig. 1.
Initial abstract screening and full-text assessment
Titles and abstracts were assessed for eligibility by two
reviewers according to the study selection criteria. Any
uncertainties between the reviewers were settled by discussion until consensus. For the abstracts possibly suited
for inclusion in this systematic review, full manuscripts
were obtained and evaluated in detail.

123

Six studies evaluated the effect of a positive family history


in both adults and children including a total of 28,746
persons [15, 16, 20, 23, 25, 26]. However, the majority of
patients arise from a single prevalence study simply registering persons with self-reported first-degree family
members with hernias [20], leaving 1,338 persons from the
other clinical studies. The overall findings of these studies
were that a positive family history of inguinal hernia was a
significant risk factor for the development of a primary
hernia, with the highest risk being a RR 8.35 (CI 95 %
4.7214.76, p \ 0.01) between male family members [15].
Moreover, a positive family history showed a tendency
toward a higher recurrence rate with an OR 8.43 (CI 95 %
0.9178.40, p = 0.06) [25] and significantly earlier recurrence after the primary procedure [16].
Two studies evaluated the effects of a positive family
history in children [21, 24]. It was found that mothers and
girls more often were affected than mothers and sons and
that this effect was most pronounced when the daughters
had bilateral hernias [21]. Furthermore, it was shown that
all other first-degree relatives to a child with an inguinal

Hernia (2013) 17:183189

185

Fig. 1 Flow diagram of study


selection

hernia had an increased relative risk [24]. The studies


showed that girls with sisters that had been operated for
inguinal hernia had a significantly increased risk of developing a hernia themselves of RR 17.8 (CI 95 % 6.946.3).
Twin studies (Table 1)
Two studies examined the hernia occurrence between
monozygotic (MZ) and dizygotic (DZ) twins and included
a total of 2,861 twin pairs [27, 28]. One study found that
MZ twins did not have an increased occurrence of inguinal
hernia compared with DZ twins [27], whereas the other
study found that MZ twins had a significantly higher frequency of hernias than DZ and concluded that the difference was related to genetic factors [28]. Both of these twin
studies were large in size; however, the largest of the
studies did not specify what types of hernia that were
included in the study [28].

Inheritance patterns and penetrance (Table 1)


The studies evaluating inguinal hernia inheritance patterns
did not agree. Polygenic inheritance [21], autosomal dominant with reduced penetrance [23], and multifactorial
inheritance [24] have been suggested. No studies have
reported indications of inguinal hernias being inherited
through simple inheritance patterns. Common for the
studies that addressed penetrance was a reporting of it as a
secondary finding despite its importance for the subject.

Discussion
This systematic review found that a positive family history
was a significant risk factor for development of primary
inguinal hernia. The suggested inheritance patterns in the
included studies differed between autosomal dominant,

123

Population, Hernia
type

2,537 twin pairs


(age 270 years).
Hernia type: ns

324 twin pairs (age


518 years).
Hernia type: IIH

1,723 children
(age 012 years).
Hernia type: IIH

707 parents of
children with
CIH. Hernia
type: CIH

340 persons (319


males, 21
females). Hernia
type: IIH

72 female patients
(129 controls).
Hernia type: IH

27,408 males (age


2022). Hernia
type: IH

2,268 children
(1,921 males,
347 females)
(age 05 years).
Hernia type: CIH

142 patients (age


1879 years),
(91.2 % males).
Hernia type: IH

Study

Marshall
et al. [28]

123

Bakwin
et al. [27]

Sawaguchi
et al. [21]

Czeizel
et al. [22]

Gong et al.
[23]

Liem et al.
[26]

Akin et al.
[20]

Jones et al.
[24]

Junge et al.
[25]
ns

Brothers of male case and female


cases (RR 5.8, RR 4.3). Sister of
male case and female case (RR
3.7, RR 17.8)

ns

ns

Direct male to male transmission


in 52 % of families

Fathers/mothers to children (RR


2/RR 5). Brothers/sisters of
female cases (RR 3.4/RR 7.1).
Brothers/sisters of male cases
(RR 3.6/RR 5.3)

More pronounced from mother to


daughter than mother to son
(p \ 0.05)

ns

ns

Inheritance

Results

Table 1 Outcomes of the included studies

ns

ns

ns

ns

ns

ns

ns

More MZ
twins with
hernias
than DZ
twins
(p = 0.02)
No difference
between
MZ and DZ
twins

Concordance

Positive family history


in patients (OR 8.43
(CI 95 % 0.9178.40)

ns

Family history: (20.6 %


reported first-degree
relatives with hernia)

Positive family history


in patients compared
with control group
(OR 4.3 (CI 95 %
1.99.7))

ns

ns

Bilateral hernias in
children correlated to
mothers with hernias
(p \ 0.05)

ns

ns

Risk

Interview-based family data (recall bias).


No control group. Not defined the degree
the relatives had to the patients

Positive family history factor


for IH

Multifactorial inheritance
with threshold

High frequency of positive


family history among IH
patients

Positive family history of


inguinal hernia is a risk
factor for development of
inguinal hernia in females

Interview-based data (recall bias). The


degree the relatives had to the patients
not defined. Not completely matched case
and control groups
Interview-based data (recall bias). No
control group. No population prevalence
of IH for comparison

Autosomal dominant
inheritance with reduced
penetrance

Multifactorial dominant
inheritance with threshold.
Mothers more affected than
fathers. Parents less
affected than siblings

Polygenic inheritance with


threshold. More likely that
females have positive
family history of hernia
than males

No genetic basis for hernia


development in children

Any difference in
concordance relied on
genetic factors

Conclusions

No control group. No background


population incidence of hernias. No
knowledge of spontaneous hernia
occurrence in population

Interview-based data from parents (recall


bias). Statistical significance not stated

Interview-based data from parents (recall


bias). Family data retrieved from half of
the included children. No control group,
background frequencies of IH based on
assumptions

Interview-based data from mothers (recall


bias). Twin zygosity determined partly by
clinical examination

Twin zygosity loosely determined by


questions to relatives (inclusion bias,
recall bias). Zygosity testing performed
on 44 twin pairs

Limitations

186
Hernia (2013) 17:183189

Ns not stated, MZ monozygote, DZ dizygote, CIH congenital inguinal hernia, IIH indirect inguinal hernias, IH inguinal hernia, RR relative risk, OR odds ratio, CI 95 % 95 % confidence interval

Patients with a family history


have recurrence at a
younger age
Interview-based family data (recall bias)
Positive family history
risk factor for earlier
onset of recurrence
ns
75 patients (age
1874). Hernia
type: IH
Jansen
et al. [16]

ns

Positive family history


risk factor for IH
development
(p \ 0.01, RR 8.35
(CI 95 %)
4.7214.76)
ns
709 male patients
(age 5278) (709
male controls).
Hernia type: IH
Lau et al.
[15]

ns

Population, Hernia
type

Inheritance

187

Study

Table 1 continued

Results

Concordance

Risk

Limitations

Interview-based family data (recall bias).


Not defined the degree the relatives had
to the patients

Conclusions

Positive family history risk


factor for primary inguinal
hernia development

Hernia (2013) 17:183189

polygenic and multifactorial inheritance; however, all


suggested inheritance patterns were complex and no studies suggested simple monogenic inheritance. Neither did
the included studies agree on the degree of penetrance.
The included studies in this review are heterogenic and
differ somewhat in design, size, aim, and outcome. In five
of the included studies, positive familial history of hernia
or inheritance of hernia was typically a secondary finding
[15, 16, 20, 25, 26]. All of the included studies except one
[24] had a degree of recall bias, since recording of hernia
occurrence was based on interviews rather than actual
surgical data, register-based data, or clinical examinations.
Furthermore, a general problem in all of the studies except
three [15, 24, 26] was the lack of a comparative control
group, which reduced the possibility of transferring the
results to a wider demographic population. Some studies
lacked a clear definition of a positive family history
[15, 16, 23, 26]. This reduces the possibilities of determining the degree of inheritance, since it could not be
extracted from the studies whether affected relatives were
directly related (first degree) or more distantly related,
which may greatly complicate interpretation of the results.
Some studies were unclear in the calculation of the degree
of inheritance from the data or did not state whether results
were significant [16, 22, 25, 28]. In two of the included
studies [21, 26], it was not stated whether the data were
based on clinical examinations or surgical procedures, in
which case clinical observer bias cannot be excluded.
In the two included twin studies, the twin zygosity was
established by blood group analysis on a small subgroup of
the entire included study population and by opinions from
relatives, as to whether the siblings were MZ or DZ twins.
Thus, these methods may be neither rigorous nor consistent
enough to produce clear conclusions [27, 28]. However, in
the one study finding a higher concordance between MZ
twins compared with DZ twins, the results are interesting
since it is given that MZ twins have identical genomes, and
the fact that a larger fraction of MZ twins develops hernias
compared with DZ twins strongly points toward a genetic
aspect [28].
Besides the included studies in this review, a few case
studies have reported families with a hereditary predisposition to inguinal hernias [2934]. Together with the
studies in this review, the two main other studies suggested
that inheritance patterns are autosomal dominant inheritance with incomplete penetrance and male influence
[23, 29, 30, 32, 33] and polygenic multifactorial inheritance with a threshold [21, 22, 24, 34]. The strongest link
has been found between females with hernias; however, a
definite and clear inheritance pattern has not yet been
found. It is most likely that a possible inheritance pattern of
groin hernia is complex, and the level of penetrance of the
involved genes may play a major role. No studies have

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188

reported on possible hereditary predisposition of other


types of groin hernia (e.g., femoral hernias) than inguinal
hernias, most likely due to their rarity compared with
inguinal hernias.
In determining a possible inheritance pattern of a disease
as common as inguinal hernias, several elements need to be
addressed. Besides distinguishing between inguinal and
femoral hernias, it may be relevant to separate analyses of
inguinal hernias for direct and indirect inguinal hernias,
since the two hernia types might have different etiologies.
It is known that children predominantly develop indirect
inguinal hernias, whereas adults have both direct and
indirect inguinal hernias [35]. It has been hypothesized that
a direct inguinal hernia is caused by a local collagen
weakness, whereas the indirect hernia is due to a congenital
malformation (persistent processus vaginalis) [36, 37]. This
possible difference between the indirect and the direct
inguinal hernia may suggest that the children and the adult
hernia have different etiologies. The included studies in
this review are based on data from children as well as
adults and include both direct and indirect inguinal hernias
in their datasets, which may reduce the possibility of
retrieving a common conclusion on inheritance pattern
among the studies. As seen in Table 1, gender seems to be
an important factor for the development of groin hernias.
In general, contradictory results were seen among the
included studies regarding gender influence on the risk of
developing an inguinal hernia. Some studies found that
female members of affected families had higher risks than
males [21, 22, 24, 26], whereas other studies found high
risk among males for developing inguinal hernias [15, 23,
25]. Due to the heterogeneity of the study designs as well
as the disagreement of the results, no final conclusion
regarding the gender influence can be made on the basis of
the included studies. Furthermore, it is important to be
aware of the amount of male and female cases in the
selected families, since inguinal hernias are more common
among males. Therefore, families with many males may be
influenced by a high spontaneous frequency of inguinal
hernias. Finally, it should be clarified if any of the affected
family members suffered from a collagen disease that may
predispose to hernias. The fact that the included studies
suggested different complex possible inheritance patterns
and varying degrees of penetrance points out the possible
complexity of this area. The fact that inguinal hernias
might are inherited with reduced or varying penetrance
greatly increases the requirements for study designs and
study size, since the possibility of locating a strong familial
connection reduces with low genetic penetrance.
In finding a possible positive family history of groin
hernia, several factors need to be considered. The design of
the study should be as concise and methodically strict
as possible. Preferably, it should be a large-scale study,

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Hernia (2013) 17:183189

including persons over a geographically wide area so that


the data are representative of the general population. Several of the studies lack this element. Furthermore, a precise
definition of a positive family history should be used. The
authors recommend that the definition should be restricted
to include only first-degree family members. The studies
should also be based on incidence data rather than prevalence data, given that there otherwise will be a risk of
misjudging the potential familial relation. Thus, the risk
estimates from prevalence data are limited to the study
period only, whereas lifetime risk is evaluated in incidence
data. Finally, the data should be based on safe measureable
hernia data such as operation charts instead of interview
data or clinical examinations, in order to eliminate possible
recall bias and clinical observer bias. The strongest of the
included studies make use of register-based repair data,
however, only focusing on indirect congenital inguinal
hernias in children aged 05 years and their siblings [24].
None of the other included studies make use of registerbased data.
The possible determination of hernia inheritance and
thereby identification of high-risk patients may have several
clinical implications. It is known that up to 5 % of inguinal
hernias and 40 % of femoral hernias require acute surgery
due to hernia incarceration [2, 3]. Mortality rates in elective
groin hernia procedures are reported to be less than 0.5 %
[38], whereas emergency groin hernia repairs are associated
with a mortality rate of 28 % [39, 40]. A possible method
for identification of high-risk patients would allow timely
control and intervention before the hernia is presented
acutely. By establishing patients at high risk and possible
inheritance patterns, it may be possible to reduce mortality
and complications by having particular focus on these
patients. From a clinical point of view, knowledge of these
high-risk patients may potentially result in different treatment strategies, for example, with the use of larger meshes
and more frequent postoperative follow-up, since patients
with a positive family history have a documented tendency
of overall higher recurrence rate [25] and a significantly
higher risk of earlier recurrence [16].

Conclusion
In conclusion, the literature on the inheritance of groin
hernias indicates that groin hernias most probably are
inherited. However, due to the heterogeneity of the included studies, no final conclusion can be made at this point,
on either the extent of familial accumulation or an inheritance pattern. In order to establish whether groin hernias
are hereditary and to what extent, large register studies
based on hernia repair data or clinical examinations are
needed. Furthermore, larger-scale studies examining the

Hernia (2013) 17:183189

inguinal hernia concordance of MZ twins compared with


DZ twins should be performed.
Conflict of interest

189

19.

None.
20.

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