Re: Re: Familial cases. WAS: child with recurring symptoms after Heller Myotomy

[Guest guest]

Barb wrote:

> ... I am a complicated patient as stated by a top doctor in the field.

> My father passed away from cancer of the esophagus... My son was

> diagnosed with a malrotated intestines... My niece was diagnosed with

> Crohn's Disease... I am very curious why 4 people in my close family

> have been affected with serious GI issues, strange or just a coincidence?

It may just be coincidence. GI problems are not that uncommon and some

family is going to have more than their share just by chance. Even when

other problems are found in a patient with achalasia does it mean there

is a connection or is it just a coincidence. There are syndromes like

Down's syndrome or CREST syndrome which can produce achalasia in some

cases. There are other disorders and syndromes that may increase the

risk of achalasia but it is not clear because there are not enough cases

of people having these other combinations to study. When the same

combination of symptoms shows up in siblings it increases the chances

that genetics are at work. This is especially true if the children are

from consanguineous parents. This can be seen by looking at the reports

of Triple A (Allgrove) syndrome. An interesting search is:

http://www.ncbi.nlm.nih.gov/pubmed?term=achalasia%20consanguinity

Below are some abstracts. Are they examples of achalasia syndromes or

just coincidental association? Some like Down's and CREST are achalasia

syndromes but how many others are? It is not clear. Some people with

achalasia are going to have other problems too just by chance. So will

their families.

notan

Prospective evaluation of esophageal motor dysfunction in Down's syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/11419820

Functional dyspepsia and irritable bowel syndrome in patients with

achalasia and its association with non-cardiac chest pain and a

decreased health-related quality of life.

http://www.ncbi.nlm.nih.gov/pubmed/19263270

[Esophageal achalasia, sleep disorders and chorea in a tauopathy without

ophthalmoplegia, parkinsonian syndrome, nor dementia (progressive

supranuclear palsy?): clinicopathological study].

http://www.ncbi.nlm.nih.gov/pubmed/18439931

Sensory ataxic neuropathy and esophageal achalasia in a patient with

Sjogren's syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/17221876

A 13-year-old female with syndrome and achalasia.

http://www.ncbi.nlm.nih.gov/pubmed/17172077

-Lemli-Opitz syndrome with a classical phenotype, oesophageal

achalasia and borderline plasma sterol concentrations.

http://www.ncbi.nlm.nih.gov/pubmed/16435228

Anorectal motility in patients with achalasia of the esophagus:

recognition of an esophago-rectal syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/14563218

Megacystis-microcolon-intestinal hypoperistalsis syndrome associated

with megaesophagus.

http://www.ncbi.nlm.nih.gov/pubmed/10370043

Megaoesophagus in a patient with autoimmune polyglandular syndrome type II.

http://www.ncbi.nlm.nih.gov/pubmed/8959091

Achalasia-like syndrome presenting after highly selective vagotomy.

http://www.ncbi.nlm.nih.gov/pubmed/7555468

Guillain-Barre syndrome and achalasia: two manifestations of a viral

disease or coincidental association?

http://www.ncbi.nlm.nih.gov/pubmed/8079948

[Achalasia and Guillain-Barré syndrome].

http://www.ncbi.nlm.nih.gov/pubmed/19899023

Marfan's syndrome presenting with achalasia of the oesophagus. A case

report.

http://www.ncbi.nlm.nih.gov/pubmed/7053187

[Higher incidence of thyropathy in patients with oesophageal achalasia.

Genetic, autoimmune, regional or just a random association?].

http://www.ncbi.nlm.nih.gov/pubmed/18630612

Achalasia and thyroid disease.

http://www.ncbi.nlm.nih.gov/pubmed/17278227

[slowly regressing acute pandysautonomia associated with esophageal

achalasia: a case report].

http://www.ncbi.nlm.nih.gov/pubmed/18405650

Dysphagia with multiple autoimmune disease.

http://www.ncbi.nlm.nih.gov/pubmed/10941818

A rare case of achalasia coexistent with sigmoid megacolon and

associated with epilepsy.

http://www.ncbi.nlm.nih.gov/pubmed/8000513

Idiopathic megacolon associated with oesophageal achalasia.

http://www.ncbi.nlm.nih.gov/pubmed/9581991

Achalasia occurring years after acute poliomyelitis.

http://www.ncbi.nlm.nih.gov/pubmed/8147735

Treacher syndrome and achalasia.

http://www.ncbi.nlm.nih.gov/pubmed/3443734

Achalasia like disorder of the oesophagus in von Recklinghausen's

neurofibromatosis.

http://www.ncbi.nlm.nih.gov/pubmed/3123332

[The association of megaesophagus, Binder's syndrome and dysautonomia: a

new neurocristopathy].

http://www.ncbi.nlm.nih.gov/pubmed/3579466