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The Inheritability and Genetic Aspects of Groin Hernias
11
Table 1. Effect of Positive Family History on Groin Hernia Development/Recurrence
Study
Design
Number of
participants
Effect of positive family history
Liem et al, 1997
Case-control
72 female patients
129 female controls
+
OR 4.3 (1.9-9.7)
Lau et al, 2007
Case-control
709 male patients
709 male controls
+
RR 8.4 (4.7-14.8)
Jansen et al, 2009
Cohort
75 patients
+
Earlier recurrence (p = 0.04)
Akin et al, 1997
Interview-
based
27,408 males
+
20.6 % of males with IH had
positive family history
Junge et al, 2006
Cohort
142 patients (91 %
males)
(+)
OR 8.4 (0.9-78.4)
Ashindoitiang et
al, 2012
Case-control
202 male patients
202 male controls
+
OR 7.0 (4.1-12.0)
Values in parenthesis are 95 % confidence intervals.
IH: inguinal hernia, PFH: positive family history of groin hernia
Table 2. Inheritance patterns of groin hernias
Study
Design
Number of
participants
Inheritance pattern
West, 1936
Two-family
study
32 persons (family one)
52 persons (family
two)
+
AD with incomplete
penetrance and male
influence
Sawaguchi et al,
1975
Interview-based
study
1,723 children
+
Polygenic inheritance with
threshold
Gong et al, 1979
Family study
340 persons
+
AD with incomplete
penetrance
Jones et al, 1998
Register-based
study
2,268 children
+
Multifactorial inheritance
with threshold
Czeizel and
Gárdonyi, 1979
Interview-based
study
707 persons
+
Multifactorial dominant
inheritance
Weimer, 1949
Family study
28 persons
+
Sex-linked dominant
inheritance
Montague, 1942
Family study
5 persons
+
Sex-linked dominant
inheritance
Smith, 1965
Family study
71 persons
+
AD with incomplete
penetrance
AD: autosomal dominant
In addition to these large clinical trials, several minor reports of families with groin
hernia and probands have been published, focusing on possible inheritance patterns of groin
hernia [West, 1936; Montague, 1942; Weimber, 1949; Smith, 1965; Akbulut et al., 2010].
When the conclusions from these minor case series are combined with large clinical studies,
three possible inheritance patterns seem to be consistently reported: 1) autosomal dominant
inheritance pattern with incomplete penetrance [West, 1936; Smith, 1965; Gong et al., 1994];
2) sex-linked dominant inheritance [Montague, 1942; Weimer, 1949]; and 3) polygenic,
Jakob Burcharth and Jacob Rosenberg
12
multifactorial inheritance with a threshold [Sawaguchi et al., 1975; Czeizel and Gárdonyi,
1979; Jones et al., 1998].
A consensus or agreement about the possible inheritance patterns has not yet been
established; however, autosomal dominant inheritance with incomplete penetrance and male
influence as well as polygenic multifactorial inheritance with a threshold seem to be
consistently reported in the literature (Table 2). It is without doubt that a positive family
history plays an important part in the development of groin hernia; however, the precise
impact and mechanism have yet to be established. The inheritance of groin hernia can be
further divided into inheritance of inguinal and femoral hernias, bearing in mind that a study
of possible inheritance patterns of female hernias would be very complex to perform due to
the low numerical number of femoral hernias in females. Furthermore, inguinal hernias can
be subdivided into the subtypes (IIH, DIH). The majority of studies investigating inheritance
of groin hernias have focused on congenital IIH.
THE GENETIC ASPECTS OF GROIN HERNIAS
The possibility of a defect in connective tissue composition of the tissue surrounding the
inguinal canal has long been proposed as a major risk factor for development of inguinal
hernias [Read, 2004]. The ultrastructure of these tissues mostly consists of collagen, elastic
fibers (containing elastin and microfibrils) and glucosaminoglycan (GAG) components
[Barnett et al., 2009]. Studies in pigs have aided in defining the underlying genetic basis for
such defects. Groin hernias in pigs are a relevant problem in modern agriculture since the
price of the animal decreases with illness; thus, farmers, as well as the pork processing
industry, have a vested interest in identifying the causality of groin hernia development. In
this regard, efforts have been made to locate relevant genes as a tool to help prevent scrotal
hernias in pigs. In pigs, scrotal hernia formation is suggested to arise in the same way as in
humans, mostly via PPV. Such work has identified mutations in several genes of interest
(INSL3, MIS, CGRP) [Grindflek et al., 2006; Ding et al., 2009].
A wide variety of genetic diseases and syndromes have been linked to the presence of
groin hernias. In general, these disease can be divided into microfibril diseases (e. g.., Marfan
syndrome, Loeys disease), elastin diseases (e. g., Williams syndrome, cutis laxa, Costello
syndrome), collagen based diseases (e. g., Ehlers-Danlos syndrome, osteogenesis imperfecta),
as well as disorders of sexual differentiation (e. g., androgen insensitivity syndrome) [Barnett
et al., 2009]. All of these diseases and groups of diseases have a high association with groin
hernia development, and may offer insight into relevant genes of interest regarding
development of groin hernia, though specific mechanisms with respect to these diseases and
development of groin hernia are not understood.
Microfibril Disorders
Microfibrils are glycoproteins that are essential for the stability of elastic fibers and
provide elasticity in the connective tissue [Kielty et al., 2002; Kielty, 2006; Barnett et al.,
2009]. There are many different types of microfibrils, all with different functions, however
The Inheritability and Genetic Aspects of Groin Hernias
13
the most important with regard to the etiology of groin hernia development is the
glycoprotein, fibrillin-1 [Charbonneau et al., 2003]. Fibrillin-1 is primarily located in the
aorta, large arteries, skin, ligaments and connective tissue [Barnett et al., 2009]. Two
important clinical syndromes resulting from defects in microfibrils and shown to correlate
with the development of groin hernias are:
Marfan syndrome (MFS): Marfan syndrome occurs in approximately 1 of 5,000 births
and has autosomal dominant inheritance, with approximately 15–30% of cases arising
sporadically [Loeys et al., 2001]. This means that about 75% of patients have an affected
parent [Von Kodolitsch and Robinson, 2007]. More than 600 mutations of genes coding for
microfibrils have been noted in MFS, and one of the most important mutations is the mutation
at 15q21.1, which results in abnormal fibrillin-1 synthesis, secretion and use [Milewicz et al.,
1992]. Recurrent inguinal hernia is part of the diagnostic criteria for MFS. Several patient
series have documented that the inguinal hernia occurrence is higher in patients with MFS
compared to the background population, with an inguinal hernia prevalence of 20-42 % in
MFS patients [Pyeritz and McKusick, 1979; Aoyama et al., 1995; Finkbohner et al., 1995].
Loeys-Dietz syndrome: Loeys-Dietz syndrome is a rare genetic disease, with a pattern
of autosomal dominant inheritance [Barnett et al., 2009]. It arises due to mutations in the
GFR-1,2 genes, and the major manifestations often involve the heart and the musculoskeletal
system. A very high prevalence (37%) of inguinal hernia has been reported in patients
suffering from Loeys-Dietz syndrome [Loeys et al., 2006].
Elastin Disorders
Elastic fiber formation is dependent on both microfibrils and elastin. Elastin is a protein
that comprises the core of all elastic fibers in the human body [Kielty, 2006]. Several genetic
syndromes related to the occurrence of inguinal hernia have been described, including:
William’s syndrome: William’s syndrome is a rare disease. A deletion mutation at the
7q11.2 area includes the ELN gene, which results in defective elastin. The clinical features of
William’s syndrome include aortic stenosis and mental retardation; and groin hernias have
been described in 24-33% of patients suffering from William’s syndrome [Lowery et al.,
1995; Amenta et al., 2005].
Cutis laxa syndrome (CL): CL syndrome is characterized by loose, redundant skin and
multiple connective tissue disorders. CL syndrome consists of two major types: a milder
autosomal dominant type and a very severe autosomal recessive type [Barnett et al., 2009].
The milder, autosomal dominant type, in particular, is characterized by loose skin, inguinal
hernia, gastrointestinal diverticula and aortic dilatation [Brooke et al., 2008]. Several case
series have described high prevalence of inguinal hernia in patients suffering from CL [Van
Maldergem et al., 1989; Damkier et al., 1991; Tassabehji et al., 1998].
Costello syndrome: Costello syndrome is a rare disease resulting from mutations on the
HRAS 12p12.1, which causes a deficiency in an elastin binding protein [Hinek et al., 2000].
Patients with Costello syndrome have been reported to have inguinal hernia prevalence of up
to 60% [Hennekam, 2003].
Jakob Burcharth and Jacob Rosenberg
14
Collagen Disorders
Collagens are structurally similar proteins, which form chains that are organized as triple
helix structures in a very stable and rigid structure. Collagens yield structural integrity to
supportive structures such as bones, skin, ligaments, blood vessels and internal organs.
Twenty-eight different types of collagen have been identified and the most frequent are
collagen type-I, type-II (found in cartilage), type-III (found in skin, blood vessels, internal
organs, uterus), type-V (produced with collagen type-I) and type-XI (found in cartilage)
[Birk, 2001]. It is estimated that up to 25 % of all proteins in the body are collagens. Since
collagens are so abundant in the human body, defect synthesis or defect composition of
collagen can cause a variety of serious diseases [Kuivaniemi et al., 1997], including:
Ehlers-Danlos syndrome (EDS): Ehlers-Danlos syndrome is a heterogeneous group of
connective tissue diseases, and combined they occur in about 1:5,000 live births [Pyeritz,
2000]. EDS consists of six different subtypes with classic EDS-type being the most common
(genetic mutation of COL5A1/2, 80% of all EDS cases), and the vascular EDS-type being the
most severe (genetic mutation of COL3A1, 5% of all EDS cases) [Burcharth and Rosenberg,
2012]. EDS is autosomal dominant or autosomal recessive, depending on the specific EDS
type, however despite the fact that EDS in inheritable, a large number of sporadic cases occur
without evidence of familial context [Demirogullari et al., 2007].
All EDS subtypes are due to mutations that cause either defective collagen or defective
enzyme modulation of collagen fibers, resulting in loss of connective tissue structural
integrity [Bläker et al., 2007]. EDS is primarily caused by defective collagen types III and V,
compromising the structural integrity of connective tissues like skin, tendons, blood vessels
and internal organs [De Paepe and Malfait, 2004]. The amount of defective collagen type III
seems to be proportional to the risk of spontaneous rupture of blood vessels and internal
organs [Cikrit et al., 2002]. Patients suffering from EDS have increased risk of inguinal
herniation [Liem et al., 1997] with the increased relative risk reported to be 2.5 (1.6-4.0), and
the highest risk among males, aged 10-19 (Liem et al., 1997]. Other case reports involving
EDS patients have documented intercostal hernias related to coughing [De Weerd et al.,
2012] and recurrent ventral herniation after abdominal surgery [Girotto et al., 2000].
Osteogenesis imperfecta (OI): Osteogenesis imperfecta is a genetic disease
characterized by frequent fractures (´brittle bones´) and consists of seven different OI
subtypes [Marini et al., 2007]. The most common mutations involve the COL1A1 and
COL1A2 genes, affecting collagen type-I. OI is generally inherited in an autosomal dominant
fashion; however sporadic cases have been described. A prevalence of inguinal hernia,
ranging from 9-24%, has been noted in a case series study of patients suffering from OI
[Falvo et al., 1974].
Glucosaminoglycan (GAG) Disorders
Glucosaminoglycans (GAGs) consists of rigid complexes composed of proteoglycans and
polysaccharides. GAG complexes give structural support to elastic fibers and collagens
[Kielty, 2006]. Diseases linked to defective GAG complexes include:
The Inheritability and Genetic Aspects of Groin Hernias
15
Hurler syndrome: Hurler syndrome is characterized by an inherited deficiency of
lysosomal enzymes, leading to accumulation of GAG’s in connective tissues and resulting in
altered organ function and structure. The most common clinical features include a short
stature, bony abnormalities, frequent otitis media and inguinal hernia [Wraith et al., 1987].
Prevalence of inguinal hernia in patients with Hurler ranges from 33-51% [Young and
Harper, 1983; Roubicek et al., 1985].
Disorders of Sexual Differentiation
Factors that influence normal testicular descent from the retroperitoneum to the scrotum
and the subsequent obliteration of the processus vaginalis (PV) is thought to include genetic
factors, hormonal factors, and anatomical factors. Calcitonin-related peptide released from the
genitofemoral nerve has demonstrated importance in the complex process of testicular
descent [Clarnette and Hutson, 1996], and the process of obliteration has been shown to be
androgen sensitive [Shenker et al., 2006]. Androgen sensitive apoptosis of smooth muscle
cells that surround the PV is a presumed measure of obliteration [Tanyel, 2004]. Alterations
in genes related to androgen production or sensitivity have been found in patients with
cryptorchidism, a significant risk factor for development of inguinal hernia [Ferlin et al.,
2008]. Several diseases related to processes involved in sexual differentiation have been
found to carry a higher risk for development of inguinal hernia, however the most important
seems to be complete androgen insensitivity syndrome.
Complete androgen insensitivity syndrome (CAIS): this disease is caused by
mutations in the Xq11-q12 area. Patients with CAIS are chromosomally male, have testes and
normal production of androgens. However, patients with CAIS have dysfunctional androgen
receptors and are therefore unable to respond to the otherwise normal level of androgens in
the blood [Viner et al., 1997; Barnett et al., 2009]. This results in a lack of masculinization of
external genitalia. Patients with CAIS very often have patent processus vaginalis (PPV) and
the most common presentation of a patient with CAIS is a young female with bilateral
inguinal hernias [Viner et al., 1997]. It has been estimated that 1–2 % of all young females
presenting with bilateral inguinal hernias have CAIS.
CONCLUSION
Clues regarding the role of genetics in the development of groin hernias can be found
both studies of animals and of humans with connective tissue disorders. It is clear that
connective tissue defects play a major role in the development of inguinal hernias. However,
the etiology of groin hernias is most probably multifactorial with both genetics and external
factors having important roles.
The epidemiology, occurrence and recurrence patterns vary for the different types of
groin hernias. Thus, when evaluating groin hernias, including inheritance, the analyses and
studies should differentiate between the different hernia types (IIH, DIH and femoral hernias).
Jakob Burcharth and Jacob Rosenberg
16
There are several clinical implications to determination of groin hernia inheritance
patterns and to identifying the specific genetic components involved. 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. Furthermore, persons at risk could be monitored preoperatively to avoid complications,
and postoperatively to monitor for potential recurrence or contralateral groin hernias.
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