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Pectus Excavatum Causes

Explores PE in

Hereditary Connective 

Tissue Disorders and Rickets

 
 
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Contents: 

Highly Recommended Articles -

Exercise therapy in the correction of pectus excavatum (pdf page 10) from the Journal of Paediatric Respirology and Critical Care.

Sydney A. Haje, MD web site - before and after pictures of people with PE after nonsurgical treatment using bracing and exercise therapy.


Overview 

Pectus excavatum (PE) is defined as an abnormal formation of the rib cage where the breastbone caves in,  resulting in a sunken chest appearance.  Many doctors describe PE as a cosmetic defect or a congenital defect that is correctable only through surgery.  But is it?  

This web site looks at the environmental factors that may influence pectus excavatum and the other rachitic skeletal  features that often occur along with it, such as bowed limbs, scoliosis and flat feet. 
 
 
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Scoliosis, Bone Densities and Pectus Excavatum 

Research shows that both pectus carinatum and pectus excavatum are associated with scoliosis.  Almost all studies of scoliosis and bone densities show that people with the disorder have low bone densities.  A 1999 study in Europe recommended that everyone with scoliosis be screened for osteopenia, even children.  (See my related section on diet and exercise treatments for scoliosis. )  It would be logical to consider the possibility that people with pectus excavatum also have bone density issues and as a cause of why their chests sink in.

In disorders where people have sunken chests as a prominent feature, studies show that they almost invariably have osteopenia or osteoporosis.  

These conditions include:  

Marfan syndrome  
Ehlers-Danlos syndrome  
Homocystinuria  
Osteogenesis imperfecta  
Down syndrome  
Turner syndrome  
Noonan syndrome  
Rett syndrome 
Camptodactyly Syndrome 

I have not found any studies showing that bone densities in disorders where pectus excavatum is a feature are above average, and only a couple that show they may be normal.  They vast majority of the studies show the conditions in which PE appears are linked to low bone densities. Low bone densities are the common link. 

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PE, Scoliosis and Rickets   

It is well established that pectus excavatum and scoliosis can occur as a result of nutritional deficiencies that cause bones to soften, bend, bow, and sink in.  This condition is called rickets.  It has a variety of known causes.  The most well known is a vitamin D deficiency from a lack of sunlight.  Rickets was common in children who used to work in factory sweat shops for long hours where their skin never saw the light of day. Rickets was a prime factor in the adoption of child labor laws at the beginning of the industrialized era.

U.S. medical doctors say rickets are uncommon in the U.S today.  But I do wonder if rickets are really uncommon, or it is just that doctors think it is uncommon, and therefore the condition often goes undiagnosed.  If you are reading this you may have, or know someone who has a sunken chest.  Did your doctors ever mention, or rule out rickets, as a cause of the pectus deformity? 

 

Just as calcium deficient hens lay soft-shelled eggs, we develop many soft people from the lack of certain mineral elements.
Bernard Jensen, You Can Master Disease

If you look at all of the studies of "isolated" pectus excavatum, or disorders such as osteogenesis imperfecta or Marfan syndrome where PE is a feature, sunken chests are not the only feature these patients have in common with rickets.  They often have lots of other rachitic skeletal features too, like flat feet, hypermobile joints (also known as being double jointed), large foreheads or bowed limbs.  The following table compares features of rickets to features of three connective tissue disorders.  I think they are suspiciously close.  
 

Disorder/    
Feature
Rickets Marfan     
EDS  
 
Osteo- 
genesis 
Imper- 
fecta
Delayed gross motor skills x x x x
Acetabuli malformations x  x   x
Pectus excavatum x x x x
Pectus carinatum x x x x
Small stature x     x
Thickened,  
widened wrists
x      
Kyphosis x x x x
Scoliosis x x x x
Rachitic rosary x      
Fractures x   x x
Large frontal lobes x     x
Lax ligaments x x x x
Osteopenia x x x x
Pes planus (flat feet) x x x x
Genu valgum (knock knees) x x x x
Genu varu (bow legs) x x x x
Delayed dentition x   x x
Severe caries x   x x
Defective/ 
discolored  
tooth enamel
x    
Rib flares x      
Large joints x      
Poor muscle tone x x x x
Deep set eyes x x x  
Excessive sweating  x     x
Sweaty head* x     x
Pot Belly x x    

  
I've done some of my research on connective tissue disorders by signing on to email groups and corresponding with other  people that have these types of disorders where pectus excavatum is a feature.  I noticed reports of people with osteogenesis imperfecta who mentioned that their parents or grandparents were diagnosed with rickets years ago.  I doubt that the older relatives had rickets but the younger relatives, with all of the same symptoms, really had incurable genetic disorders. It seems more likely that both generations had an inherited tendency to develop the same medical conditions, and the diagnosis the different relatives received depended upon current medical dogma of the era.  


* For more information on sweaty heads, see my section on sweaty heads, especially at night.

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Blue Sclera, Pectus Excavatum and Rickets 

Blue sclera are found frequently in conjunction with pectus excavatum and other ricket-like features in a wide variety of disorders.  Interestingly, many geneticists say that blue sclera are a sign of incurable genetic disorders, such as osteogenesis imperfecta, Ehlers-Danlos syndrome and Marfan syndrome.  Yet, multiple, independent studies from countries as diverse as Japan, Spain, Russia and Bulgaria all shown that most people with blue sclera have iron deficiency anemia. A study published in the Lancet, noted that  blue sclera appear to be a good indicator of iron deficiency and a check for this condition should become a regular part of clinical examinations.   

  
It is my understanding, from doing background research for this site, that routine screening for iron deficiency anemia is not standard practice in most genetic exams for people with blue sclerae.  This is an important fact to know because iron deficiency anemia may have a genetic predisposition, but it is a treatable condition.  It also provides an indication that there may be undetected nutritional deficiencies in people who have blue sclera, and perhaps in the conditions that occur frequently along with it, such as pectus excavatum and other rachitic skeletal defects.  

Interestingly, iron deficiency anemia and rickets are both features of Celiac disease.  Celiac disease may be inherited, but it is environmentally controllable through avoidance of gluten containing foods.  One of my antique medical books describes a condition called "blue sclerotics", and notes it is a hereditary condition that is brought on by a dietary deficiency.  Maybe those old time doctors knew what they were talking about. 

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PE, Rickets and Genetic Disorders 

I collect medical books from different eras for a hobby.  In the books from the early part of the 1900s, there are many descriptions of rickets and few, if any, descriptions of incurable, genetic connective tissue disorders with rachitic skeletal features.  There were few, if any, occurrences of "isolated" cosmetic sunken chests.  Pectus excavatum was almost always attributed to rickets.  In the "modern" books, rickets is said to be rare, yet suddenly there are tons of incurable inherited connective tissue disorders written up with almost identical features as rickets, and PE begins to appear as a cosmetic condition of unknown origin.   

  
The Online Mendelian Inheritance in Man lists 61 genetic disorders that mention pectus excavatum.  Of the features of these disorders, besides PE, almost all include other features of rickets such as large foreheads, flat feet, hypermobile joints, bowed limbs and scoliosis.  I doubt that this would be sheer coincidence. It's probably not the causes of disorders that have changed that much over the years but more likely just the way they get diagnosed. Many conventional medical doctors of today simply aren't trained to recognize the symptoms of vitamin and mineral deficiencies.

I'm not sure how rickets gets medically diagnosed today, and whether it ever really does much or not.  Perhaps there are some biochemical tests doctors use that define what is, or what is not, rickets. However, if you define rickets based on a clinical diagnosis, i.e. people who have symptoms similar or identical to the symptoms of rickets, as shown in the table above, then people with features like bowed limbs, flat feet, osteopenia, fractures and sunken chests would in fact have rickets.  It just depends upon how you technically define the disorder. 

The child of an acquaintance has pectus excavatum.  Interestingly, she told me she recently went to the doctor with two concerns: 1) the child's sunken chest; and 2) his white pasty stools.  The mother was told that the pectus deformity was cosmetic and not to worry about the stools.  The child was not screened for Celiac disease or tested for any of the known nutritional deficits, such as vitamin D or calcium, that can cause pectus excavatum.  White pasty stools can be a feature of Celiac disease, as are rickets, which can cause PE. It does make me wonder if the doctor knew any of the features of either Celiac disease or rickets. If it were my child I would have expected a much more in-depth exam for a serious condition like a sunken in chest.

Most of the people who been diagnosed with inherited connective tissue disorders have features that are known to be associated with nutritional deficiencies, and often these same nutritional deficiencies have been shown to be a factor in rickets in either human or animal studies.  I doubt that this is a coincidence. I suspect nutrition plays a role in many cases of pectus excavatum, whether it is diagnosed as a connective tissue disorder, rickets or an "isolated cosmetic event".

Here are a few examples of hereditary connective tissue disorder features linked to nutritional deficits:  
  

Connective Tissue Disorder Feature Can be caused by this nutritional deficiency Link to pectus excavatum/rickets

Mitral valve prolapse

Calcification of heart valves

Hearing loss

Low levels of magnesium Some types of rickets are magnesium dependent

Poor wound healing

Stretch marks (striae)

Acne

Myopia

Low body weight

Zinc deficiency Zinc deficiencies in rhesus monkeys cause rachitic skeletal features

Heavy menstrual periods

Nosebleeds

Other bleeding problems

Vitamin K deficiency Vitamin K deficiency can be caused by Celiac disease, which can also cause rickets
 
I suspect that doctors of today too quick to diagnose pectus excavatum and its related conditions as either cosmetic defects or as features of incurable genetic disorders, without first trying to determine if there could be any correctable nutritional factors causing or contributing to the symptoms. Perhaps the people with genetic disorders in which  PE is a feature do not have incurable genetic defects, but instead have genetic predispositions that are influenced by environmental factors.  
  

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Logic, Nutrition and Pectus Excavatum 

Medical research in recent years shows that spina bifida is most often caused by maternal folic acid deficits, mitral valve prolapse by magnesium deficits and recent studies are now showing occurrences of cleft palates are being significantly reduced through maternal supplementation of multivitamins containing folic acid. 

Pectus excavatum occurs along with cleft palates in 19 genetic disorders, mitral valve prolapse in 14 genetic disorders and spina bifida in 2 genetic disorders.  If nutrition can prevent/treat many cases of spina bifida, cleft palates and mitral valve prolapse, then is it logical to consider the possibility that the PE that occurs along with these conditions may also be caused by nutritional imbalances.
 
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Rickets and Nutrition in Animals  

Rickets or ricket-like features have been found to be caused or cured by a wide variety of nutritional factors in animal studies.  Incongruently, it seems that people with pectus excavatum or other features commonly associated with rickets are seldom screened for nutritional deficiencies. I think this should be considered.  Here are some samples of the types of environmental factors that influence rickets in animal studies: 

Boron supplementation has been shown to alleviate rachitic changes in chicks with rickets.  (Boron has been shown to raise estrogen levels.  Raising estrogen levels is an established cause of increasing bone densities.) 

Rats can get rickets from either calcium or phosphate shortages.  

Infant rhesus monkeys that had been subjected to a marginally zinc deficient diet developed skeletal rachitic changes similar to those found in human ricket syndromes.  

Vitamin A inhibits treatment of rickets in vitamin D deficient rats.  

Maganese overload can cause rickets in chicks.  

There was a paper in the Lancet that reported on a baby chimpanzee with rickets.  The doctors tried all sorts of supplements to cure the rickets with no results.  One thing they had noticed was that the chimp had a fondness for only soft mushy foods, so they decided to modify the chimp's overall diet to include a wider variety of fruits and vegetables.  With this overall diet change, the rickets improved.   

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Rickets and PE in Humans 

There are a wide variety of conditions that can cause pectus excavatum and other ricket-like features in humans.  Based on my own experience and from all of the email I get on sunken chests, it doesn't seem like most people are screened for these conditions. Logically, is seems like they should be. Here are some samples of the different conditions that can cause PE and/or rickets: 

Deficiencies of vitamin D, calcium and/or phosphates can cause rickets.

Rickets may also be caused by kidney disorders.

Occasionally, rickets may be caused in children with disorders of the liver or biliary (liver secretion) system.

Malabsorption disorders can cause rickets.

Celiac disease can cause rickets.

Familial Hypophosphatemia is a rare x-linked dominant disorder that can cause failure to thrive, short stature, and rickets.   

Rickets has occurred in babies as a result of aluminum containing antacid ingestion.  

Infants with rickets have lowered blood levels of vitamin K dependent osteocalin. (Lowered levels of vitamin K can cause prolonged bleeding times.  Prolonged bleeding times have been associated, in multiple, separate studies, with scoliosis, MVP and hypermobility - the basic features of almost every single hereditary connective tissue disorder.  Perhaps vitamin K plays a role in all of these disorders.)

Gastrointestinal and liver disorders can cause rickets.  

Rickets has occurred in babies whose mothers received magnesium sulfate while pregnant.  

Children with fetal alcohol syndrome may have pectus excavatum and other signs of rickets. Children who have fetal alcohol syndrome often have a variety of nutritional deficiencies, especially vitamin K.

Rickets can occur in  phosphate deficiency from prolonged consumption of aluminum hydroxide, prolonged therapy by antiepileptic drugs, osteopetrosis,  the Fanconi syndrome, when the mother has osteomalacia from dietary causes or has Celiac disease and temporary neonatal rickets probably due to enzymic immaturity.   

Some forms of rickets are caused by a magnesium deficiency.  

One online web site notes a link between chest wall deformities and mold allergies, especially in patients with chronic allergic asthma. I found this possible link interesting, because I have mold allergies as well as both of my children.

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Magnesium as a Clue to What Causes Pectus Excavatum and Other Rachitic Skeletal Features 

Mitral valve prolapse occurs frequently along with pectus excavatum, both when they occur as "isolated" features, or together as common conditions found in many genetic disorders such as Down syndrome, osteogenesis imperfecta, Ehlers-Danlos syndrome and Marfan syndrome.  In one study, 65% of the people with pectus excavatum had MVP.  As many as seventy -five percent of patients with mitral valve prolapse have been reported to have a thoracic skeletal deformity.   

Multiple studies have shown that the majority of patients with mitral valve prolapse, as much as 85%, are magnesium deficient and that magnesium supplementation alleviates the symptoms of MVP.  Mitral valve prolapse often runs in families, yet so can magnesium deficiencies, either through an inherited genetic need for high levels of magnesium, or as a result of inherited disorders such as Celiac disease.  Researchers often look for a "mitral valve prolapse gene", but this may be seeking a simple solution for what in reality is a complicated chain of genetic and environmental events.  

Magnesium deficiencies have been linked to osteoporosis and osteopenia.  Osteopenia is the underlying condition found in rickets.  Some forms of rickets are known to be caused by magnesium deficiencies, as magnesium is a needed co-factor for vitamin D.  Osteoporosis and osteopenia are basically found in all of the disorders where pectus excavatum is common, including rickets and genetic disorders such as Marfan, Ehlers-Danlos and Down syndromes.  

Magnesium is important for temperature regulation, so a magnesium deficiency may  provide a logical explanation for features such as a excessive sweating or a sweaty head, which is found in both rickets and connective tissue disorders, such as osteogenesis imperfecta. 

Magnesium is also needed for proper absorption of protein, which is needed to build strong muscles.  This may explain why people with rickets have poor muscle tone and poor gross motor skills. 

Since a magnesium deficiency is known to be a factor in MVP, then it would be highly logical to consider that a magnesium deficiency causing softened bones is also a factor in pectus excavatum that commonly occurs along with MVP.

Related links: Mitral Valve Prolapse, Heart Palpitations

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Zinc as a Clue to What Causes PE and Other Rachitic Skeletal Features 

 

 

Click here to link to my section on zinc and pectus excavatum. In my family, 3 out of the 4 of us have some kind of rib anomaly, and based on recent nutritional deficiency testing, the only nutritional deficiency we all had in common was a deficiency of zinc.

This section contains some logical reasons why pectus excavatum more commonly occurs in males why this fits in with a study that showed that the ribs of people with chest deformities showed highly decreased levels of zinc.

It also has logical reasons why sunken chests sometimes occur right before or during puberty, and why they often occur along with other features such as acne, myopia (nearsightedness) and stretch marks.

 

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Summary

Up until relative recent medical history, pectus excavatum was most often attributed to rickets, a disorder known to be caused by a variety of environmental factors, including nutritional deficiencies. Doctors of today often state that rickets are rare and that PE is a cosmetic or genetic defect. I question this line of thinking.

Most doctors in the United States receive little, if any, nutritional training, and I wonder how many of them are even aware of what rickets is or the conditions that can cause it. It is my understanding that patients diagnosed with cosmetic PE or pectus excavatum as a part of a genetic disorder are rarely ever screened for rickets or any of the nutritional deficiencies known to cause rachitic skeletal features. I would think it would be prudent to have these curable conditions ruled out as a cause of sunken chests before declaring any adult or child to have an incurable condition or cosmetic defect.

It seems obvious that strong bones would hold their shape better and that weak bones would be more likely to collapse and sink in. Recent studies show that scoliosis is closely linked to low bone densities. At least one group of scoliosis researchers has recommended that bone density testing become standard practice for everyone with scoliosis, including children and teenagers. As scoliosis and pectus excavatum are closely linked conditions, occurring frequently in conjunction with each other, it would seem logical to also make bone density testing standard practice for people with PE. In cases where low bone densities are found, it would be logical to consider environmental factors, such as nutritional deficiencies, as possible reasons for the poor bone status.

 

 

 

Related pages on this topic -

Exercises for PE

FAQ on PE - Part I

Related sections of interest:

Links to Diet in Connective Tissue Disorders.

Genes may not be the only cause of Marfan Syndrome

Osteogenesis Imperfecta

Diet Help for EDS (Ehlers-Danlos Syndrome)

Pectus Excavatum Causes, FAQ, and Exercises

Could Hyaluronic Acid Help with Aging or Connective Tissue Disorders?

Wrinkled and Dry Skin - What you Eat May Make a Difference

Zinc Deficiency Symptoms

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