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

[Guest guest]

Notan,

You are a wealth of knowledge, a great asset to this group!!

This topic is interesting to me because I am a complicated patient as stated by

a top doctor in the field. My father passed away from cancer of the esophagus

when he was 78, wish I had more detail from him as to his symptoms and when he

started having complications. He was not a smoker or drinker so his diagnosis

shocked us, unfortunately he only lived two months after being diagnosed. My son

was diagnosed with a malrotated intestines when he was 28 and was lucky to

survive, doctor gave us little hope. My niece was diagnosed with Crohn's Disease

when she was 17. I am very curious why 4 people in my close family have been

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

Barb C.

> > You mention " there are rarer familial types that are inherited. " Can

> > you provide more information or a link to this information?

>

> The most well known is Allgrove syndrome, also known as AAA (Achalasia,

> Alacrymia and Adrenal or triple A, but also 4A) syndrome. In AAA

> achalasia is just one of the problems it causes. Some of the other

> familial cases also have other problems that appear to be parts of

> syndromes. This is different from primary idiopathic achalasia where the

> achalasia is not considered part of a syndrome. Below are some

> abstracts. Many are case studies because often these types of cases are

> so rare that more than a few cases could not be studied together.

>

> notan

>

> Medscape

> Allgrove (AAA) Syndrome

> http://emedicine.medscape.com/article/919360-overview

>

> The " 4A " syndrome: adrenocortical insufficiency associated with

> achalasia, alacrima, autonomic and other neurological abnormalities.

> http://www.ncbi.nlm.nih.gov/pubmed/7895750

>

> Association of adult achalasia and alacrima.

> http://www.ncbi.nlm.nih.gov/pubmed/10235590

>

> Three sibs with achalasia and alacrimia: a separate entity different

> from triple-A syndrome.

> http://www.ncbi.nlm.nih.gov/pubmed/2817011

>

> Four siblings with achalasia, alacrimia and neurological abnormalities

> in a consanguineous family.

> http://www.ncbi.nlm.nih.gov/pubmed/8884077

>

> Idiopathic achalasia is not allelic to alacrima achalasia adrenal

> insufficiency syndrome at the ALADIN locus.

> http://www.ncbi.nlm.nih.gov/pubmed/15843079

>

> Familial adrenocorticotropin unresponsiveness associated with alacrima

> and achalasia: biochemical and molecular studies in two siblings with

> clinical heterogeneity.

> http://www.ncbi.nlm.nih.gov/pubmed/7758515

>

> Familial achalasia with absent tear production.

> http://www.ncbi.nlm.nih.gov/pubmed/3351712

>

> Infantile achalasia associated with deficient tear production.

> http://www.ncbi.nlm.nih.gov/pubmed/4067228

>

> Achalasia with absent tear production.

> http://www.ncbi.nlm.nih.gov/pubmed/7549313

>

> Dysautonomic achalasia in two siblings with Sandhoff disease.

> http://www.ncbi.nlm.nih.gov/pubmed/16352312

>

> Familial visceral neuropathy: a defined entity?

> http://www.ncbi.nlm.nih.gov/pubmed/16088914

>

> Achalasia cardia in mother and son.

> http://www.ncbi.nlm.nih.gov/pubmed/15250570

>

> Familial achalasia of the esophagus in mother and son: a possible

> pathogenetic relationship.

> http://www.ncbi.nlm.nih.gov/pubmed/489860

>

> Achalasia in siblings in infancy.

> http://www.ncbi.nlm.nih.gov/pubmed/11669040

>

> Achalasia in siblings. Clinical and genetic aspects.

> http://www.ncbi.nlm.nih.gov/pubmed/7053188

>

> A study of swallowing difficulties in first degree relatives of patients

> with achalasia.

> http://www.ncbi.nlm.nih.gov/pubmed/4023994

>

> Achalasia due to diffuse esophageal leiomyomatosis and inherited as an

> autosomal dominant disorder. Report of a family study.

> http://www.ncbi.nlm.nih.gov/pubmed/2323526

>

> [Familial dysphagia]

> http://www.ncbi.nlm.nih.gov/pubmed/3751199

>

> Family occurrence of achalasia and diffuse spasm of the oesophagus.

> http://www.ncbi.nlm.nih.gov/pubmed/3061886

>

> Achalasia and diffuse oesophageal spasm in siblings.

> http://www.ncbi.nlm.nih.gov/pubmed/499920

>

> Familial coexistence of achalasia and non-achalasic oesophageal

> dysmotility: evidence for a common pathogenesis.

> http://www.ncbi.nlm.nih.gov/pubmed/1446873

>

> Coexistent Hirschsprung's disease and esophageal achalasia in male siblings.

> http://www.ncbi.nlm.nih.gov/pubmed/9434037

>

> The combination of Hirschsprung's disease and achalasia.

> http://www.ncbi.nlm.nih.gov/pubmed/15750914

>

> An autosomal recessive disorder with posterior column ataxia and

> retinitis pigmentosa.

> http://www.ncbi.nlm.nih.gov/pubmed/9409377

>

> Familial infantile oesophageal achalasia.

> http://www.ncbi.nlm.nih.gov/pubmed/1755653

>

> Familial achalasia in children.

> http://www.ncbi.nlm.nih.gov/pubmed/2369177

>

> Familial achalasia, microcephaly, and mental retardation. Case report

> and review of literature.

> http://www.ncbi.nlm.nih.gov/pubmed/3048841

>

> Achalasia and microcephaly.

> http://www.ncbi.nlm.nih.gov/pubmed/7211947

>

> Achalasia microcephaly syndrome in a patient with consanguineous

> parents: support for a.m. being a distinct autosomal recessive condition.

> http://www.ncbi.nlm.nih.gov/pubmed/2591072

>

> Achalasia in monozygotic twins.

> http://www.ncbi.nlm.nih.gov/pubmed/7200858

>

> Congenital achalasia: facts and fantasies.

> http://www.ncbi.nlm.nih.gov/pubmed/16197535

>

> Discordance for achalasia in identical twins.

> http://www.ncbi.nlm.nih.gov/pubmed/572288

>

> Congenital cholinergic nervous system dysfunction in identical twins.

> http://www.ncbi.nlm.nih.gov/pubmed/7198889

>