Coeliac disease

celiac disease from Evana Alyoussef

question

Which of the following cell types is correctly matched with the substance they synthesize?

1-Gastric chief cells - Intrinsic factor
2-Islet A cells - somatostatin
3-Islet B cells - amylin
4-Islet D cells - pancreatic polypeptide
5-Islet F cells - glucagon

Islet beta cells produce insulin and amylin, as well as C-peptide, pro-insulin and GABA. Islet D cells produce somatostatin, F cells produce pancreatic polypeptide and A cells produce glucagon. Gastric chief cells produce pepsinogen whilst gastric parietal cells produce acid and intrinsic factor.

question

A 70-year-old male is admitted with haematemesis.

He is currently being treated with warfarin for atrial fibrillation and his INR returns as 10.

Which of the following is the most appropriate immediate treatment of his INR?

1- Cryoprecipitate
2-FFP
3-IV Vit K
4-PO Vit K
5-Prothrombin complex concentrate

This gentleman is having a potentially life threatening bleed in the setting of a grossly elevated INR.

Due to his warfarin therapy he will have reduced levels of factors II, VII, IX and X and requires replacement to correct his INR rapidly. This is most effectively achieved by the administration of prothrombin complex concentrate (Beriplex or Octaplex, 25-50 units/kg IV).

These result in complete reversal of the warfarin-induced anticoagulation within 10 minutes but the clotting factors have a finite half life and therefore 5 mg IV vitamin K should be given at the same time.

Fresh frozen plasma (FFP ) contains more dilute clotting factors and therefore produces inferior correction and should not be used in the management of life threatening bleeding (unless prothrombin complex concentrate is not available).

Cryoprecipitate and oral vitamin K are not recommended for the management of life threatening bleeding.

question

What is your diagnosis?
The diagnosis is sigmoid volvulus.
The loop of sigmoid colon has a classical bean shape, with the apex over the S2/3 junction in the left iliac fossa with the loop of sigmoid colon distending covering the liver and descending colon.

The most important feature of a sigmoid volvulus rather than a large redundant distended loop of sigmoid colon is the absence of haustra.

What is your diagnosis?
This is caecal volvulus.
Supine radiograph shows a distended upturned cecum with the configuration of a reversed letter C. there is gas-filled small bowel, paucity of gas in the ascending colon, and gas in the rectum. 

What is your diagnosis?

Toxic megacolon is defined as acute dilation of the transverse colon to 5.5 cm or more / caecum more than 9 cm and loss of haustrations during a severe attack of colitis, which can be of varied etiologies. 

Approximately half of UC patients who develop toxic megacolon do so within the first three months of diagnosis, although overall this condition occurs in only 5% of patients with UC. 

It most often occurs in patients with extensive or pancolitis but can occur with disease limited to the left colon. 

Predisposing factors include electrolyte imbalance, use of drugs that slow motility such as anticholinergics and narcotics, and procedures such as colonoscopy and barium enema performed during an acute colitis attack. 

Clinically, patients may develop fever, tachycardia, hypotension, diffuse abdominal distention and tenderness, and hypoactive bowel sounds. Leukocytosis and metabolic alkalosis may be seen on laboratory tests. 

Although certainly a surgical consultation should be initiated when toxic megacolon develops, medical therapy remains the first-line therapy for this condition, unless perforation is suspected or imminent (increasing abdominal distention with peritoneal signs and/or hemodynamic instability). 

Medical therapy includes treatment of the underlying inflammation, bowel rest, volume/electrolyte repletion, cessation of any antimotility agents, and colonic decompression. Antibiotics are generally given empirically because the mortality risk greatly increases if sepsis develops. If patients do not improve in 48 to 72 hours, then colectomy should be performed. 

Approximately 50% of patients will generally require surgery.

Complications include perforation ( 35 % ) , sepsis and shock.

Special liver stains

1.     Reticulin stains Type III collagen fibres- to assess architecture

2. Trichrome/ Haematoxylin Van Gieson (HVG) stains Type I collagen fibres-to assess fibrosis

3.     Orcein stains elastic fibres- to assess HBsAg, copper associated protein and elastic fibres- found in long standing fibrosis

4.     PAS p to identify glycogen (also useful to look for small foci of necrosis or granulomas)

5.     Perl’s stain to assess iron

question

What is the diagnosis?

The picture shows the typical 'cobblestone mucosa' of Crohn's disease with isolated areas of normal mucosa surrounded by deep ulceration (ulcerative colitis does not result in such deep ulceration).

What is the diagnosis?

This is pyoderma gangrenosum.

Estimates of the prevalence in inflammatory bowel disease (IBD) range between 2% and 5%. It tends to be associated with colonic involvement and is perhaps slightly more common in patients with UC. The clinical presentation here favours a diagnosis of UC over Crohn's.

It is most common on the lower limb and in scars or sites of previous trauma. It is treated by immunosupression. Lesions begin as small papules or pustules before breaking down into an ulcer. Ulcers are deep with a violaeceous border and and edge which overhangs the ulcer base.

Question

All of the following conditions can cause both acute and chronic liver disease EXCEPT:

A. Wilson’s disease

B. Budd-Chiari Syndrome

C. Hepatitis B infection

 D. Hepatitis A infection

E. Hepatitis E infection

Wilson’s disease, Budd-Chiari syndrome, autoimmune liver disease, hepatitis B, and hepatitis C can cause both acute and chronic liver disease, and thus they should be suspected in patients presenting with either acute or chronic liver disease or cirrhosis. Recent studies have shown that hepatitis E may cause chronic liver disease, especially in immunocompromised situations. The following conditions cause only chronic liver disease and cirrhosis, but never cause acute hepatitis or acute liver failure – PSC, PBC, NASH, NAFLD, and hemochromatosis. Hepatitis A only causes acute liver disease, but not chronic liver disease or cirrhosis.

Congenital hyperbilirubinaemias

Unconjugated

1-Gilbert's syndrome:

autosomal recessive and the most common familial hyperbilirubinaemia and affects 2-7% of the population. It is asymptomatic and is usually detected as an incidental finding of a slightly raised bilirubin (17-102 μmol/L or 1-6 mg/dL) on a routine check. All the other liver biochemistry is normal and no signs of liver disease are seen. There is a family history of jaundice in 5-15% of patients. Hepatic glucuronidation is approximately 30% of normal, resulting in an increased proportion of bilirubin monoglucuronide in bile. Most patients have reduced levels of UDP-glucuronosyl transferase (UGT-1) activity, the enzyme that conjugates bilirubin with glucuronic acid. Mutations occur in the gene (HUG-Br1) encoding this enzyme, with an expanded nucleotide repeat consisting of two extra bases in the upstream 5' promoter element. This abnormality appears to be necessary for the syndrome, but is not in itself sufficient for the phenotypic expression of the syndrome.

The major importance of establishing this diagnosis is to inform the patient that this is not a serious disease and to prevent unnecessary investigations. In patients with Gilbert’s syndrome, elevated serum bilirubin is typically caused by physical stressors, such as dehydration, febrile illnesses, periods of fasting, extreme physical exertion, and the ingestion of certain drugs. The reticulocyte count is normal, excluding haemolysis and no treatment is necessary.

2-Crigler-Najjar syndrome:

This is very rare. Type I - autosomal recessive, result from absence of UDP-glucuronosyl transferase activity. phototheray can help but Transplantation is the only effective treatment. Type II - autosomal dominant, result from decrease of UDP-glucuronosyl transferase activity. phenbarbital is effective.

Conjugated

1-Dubin-Johnson syndrome: autosomal recessive defect in the ability of the hepatocytes to excrete conjugated bilirubin i to the bile The liver is black owing to melanin deposition. mutations in both MRP2 transporter genes. 2-Rotor's syndrome: possibly autosomal dominant, due to defects in bilirubin handling in the liver.   the liver appears normal The prognosis is good in both.

hemochromatosis

Genetic hemochromatosis is most common among Caucasians and is likely to present in men at a younger age. Patient may present with non-specific complaints of fatigue, joint pain, and be noted to have hepatomegaly on examination. Other extra-hepatic manifestations may include impaired glycemic control, cardiovascular disease, hypogonadism, and arthropathy. Increased hepatic tissue iron stores within hepatocytes as detected by Prussian blue staining is diagnostic of iron overload, irrespective of genotic testing results. A hepatic iron index in excess of 1.9 µmol/g per year of life was found is excessive and confirms hepatic iron overload.

primary biliary cirrhosis

The histologic images show a portal area with a collection of non-caseating granulomas, lymphocytes, and several small, residual bile ducts (top image). Also, a classic "florid duct lesion" is illustrated on the bottom image. The histologic findings are classic for primary biliary cirrhosis.

Haemachromatosis

Haemachromatosis is caused by dysregulated iron homeostatis, due to inappropriate increased iron absorption in the duodenum and proximal small intestine. 

It is an autosomal recessive hereditary condition which is associated with homozygous C282Y mutation of the HFE gene in North Europeans. It is located on the short arm of chromosome 6. Some heterozygotes C282Y/H63D have iron overload.
Varients:
C282Y homozygous 80%
compound C282Y/ H63D heterozygous 5%
H63D homozygous
C282Y heterozygous +rare mutation e.g S65C, HAMP

Increased absorption of iron results in its deposition in the organs, notably the liver, pancreas, heart, joints, skin and pituitary. This causes cirrhosis, restrictive cardiomyopathy, diabetes mellitus, arthropathy, skin hyperpigmentation and gonadal failure. 

Males and females are affected equally, but females are often 'protected' from the clinical features by menstrual blood loss.

Iron induced injury:
Activation of Kupffer cells—
Production of profibrogenic cytokines—
Stimulation of Collagen products—
Hepatic Fibrosis and Cirrhosis are the principal pathologic findings in HH

Arthropathy is relatively common. It is chronic and progressive, and mildly inflammatory. There is a predilection for the MCP joints and is often accompanied by chondrocalcinosis. Iron load is probably a major determinant but it does not usually respond to venesection.

Early diagnosis and treatment is critical in haemochromatosis as survival and morbidity are improved if phlebotomy is initiated prior to the development of cirrhosis.

Transferrin saturation is suggested as the initial screening test: a level of more than 45% warrants further investigation (less than 45% usually excludes the diagnosis). 

Genetic screening is then performed. If the usual C282Y HFE mutation is found this makes the diagnosis.  If the C282Y HFE mutation is not present other genotypes should be looked for and if present a liver biopsy is indicated.

Ferritin is measured to help guide further investigation and treatment: if more than 1000 a liver biopsy should be performed and treatment initiated. If the ferritin is within normal range and the liver function tests are normal patients can be followed closely.

The goal of therapy is to remove excess body iron stores, which is commonly done via phlebotomy. Initially this is weekly or twice-weekly (if tolerated) venesections of 500cm3 until the serum ferritin is less than 50ng/mL. Transferritin saturation should also be reduced to less than 50% if possible. 

After these goals are reached maintenance therapy is typically required three to four times per year. 

When iron overload and anaemia are present concomitantly chelation with desferoxamine may be required. 

Patients should be told to avoid vitamin C supplementation as this can enhance iron toxicity.

End-stage liver disease, portal hypertension and hepatocellular carcinoma (which is increased up to 200 fold) may necessitate liver transplantation. This is associated with poorer outcome compared with other indications because of increased incidence of infection and cardiac complications.

Haemochromatosis is classically associated with a non-migratory, rather than migratory, polyarthritis. This particularly affects the hands: in over 50% of patients there is involvement of the 2nd and 3rd MCPs, but the PIPs, knees, feet, wrists, back and neck are also commonly involved.

Skin pigmentation rather than a rash is more typical.

Haemochromatosis can cause hypogonadism, which can also be associated with gynaecomastia but costochondrosis is a more reliable sign.

EASL guidelines:

• Patients with suspected iron overload should first receive measurement of fasting transferrin saturation and serum ferritin, and HFE testing should be performed only in

those with increased transferrin saturation.

• HFE testing for the C282Y and H63D polymorphism should be carried out in all patients with otherwise unexplained increased serum ferritin and increased transferrin saturation.

• Diagnosis of HFE hemochromatosis should not be based on C282Y homozygosity alone, but requires evidence of increased iron stores.

• C282Y/H63D compound heterozygotes and H63D homozygotes presenting with increased serum ferritin (>200 mg/L in females, >300 mg/L in males), increased transferrin saturation (>45% infemales, >50% in males) or increased liver iron should first be investigated for other causes of hyperferritinemia (1 C).

• In C282Y homozygote patients with increased iron stores, liver biopsy is no longer necessary to diagnose hemochromatosis. Liver biopsy could be offered to C282Y homozygous patients with serum ferritin above 1000 mg/L, elevated AST, hepatomegaly, or age over 40 years.

• Genetic testing of ‘other hemochromatosis genes’ (TFR2,SLC40A1, HAMP, HJV) could be considered in patients with increased iron stores after exclusion of C282Y homozygosity

if (i) iron excess has been proven by direct assessment, i.e. by MRI or liver biopsy, and (ii) other hepatic and haematologicaldisorders have been ruled out. 

According to the autosomal recessive transmission of HFE-HC, genetic testing of siblings of individuals with HFE-HC should be carried out. Genetic testing of other 1st degree relatives should be considered . (Practical and cost effective strategies for family screening have been published)

question

What is the likely diagnosis?
What is the treatment?

The X-ray shows calcification in the area of the pancreas which would support a diagnosis of chronic pancreatitis. 
The treatment is CREON pancreatic enzymes which prevents the malabsorption associated with pancreatic insufficiency.

Management:
Treat underlying cause to prevent progression
Focus on nutrition, samll meal portions, low fat
Stop smoking ( smoking speed up progression and increase risk of pancreatic cancer)
Management of chronic pain
PERT for exocrine insufficiency, insulin for diabetes

Question

Which of the following medications have been shown to be useful to improve endoscopic visibility when treating a patient with significant non-variceal upper GI bleeding?

A. IV omeprazole

B. IV vasopressin

 C. IV erythromycin

D. IV octreotide

Question

What is the diagnosis?

oesophageal candidiasis

Usually present with dysphagia or odynophagia. However, the patients may be asymptomatic. 

It often occurs together with oral thrush; however absence of thrush does not preclude a diagnosis of oesophageal candidiasis.

C. albicans is almost always the infecting organism. Symptomatic infections caused by C. glabrata and C. krusei alone have been described

Risk Factors:

• HIV infection- oesophageal candidiasis is an AIDS defining illness and occurs with CD4 counts less than 200/microL.

• Haematological and non-haematological malignancies

• Chemotherapy or use of broad spectrum antibiotics

• Use of inhaled steroids

Treatment:

• Systemic antifungal therapy is always required for treatment. Oral fluconazole (200 to 400 mg daily for 14 to 21 days) is the drug of choice due to its lack of toxicity and cost. Symptoms improve within 7 days.

• For fluconazole-refractory disease, itraconazole solution at a dosage of 200 mg daily, posaconazole suspension at a dosage of 400 mg twice daily, or voriconazole at a dosage of 200 mg twice daily administered intravenously or orally for 14– 21 days is recommended.

• Intravenous fluconazole at a dosage of 400 mg (6 mg/kg) daily, Amphotericin B at a dosage of 0.3–0.7 mg/kg daily, or an echinocandin (caspofungin, micafungin and anidulafungin) should be used for patients who cannot tolerate oral therapy.

• Suppressive therapy with fluconazole at a dosage of 100–200 mg 3 times weekly is recommended for recurrent infections

Question

what is the diagnosis?
does this patient require sureillance?

question

A 60-year-old man present to the A and E department with Jaundice and alcoholic encephalopathy and GCS of 13. He is otherwise asymptomatic.

Blood tests results:
LFT:
AST 120
ALP 220
TP 50
Bili 100
FBC:
Hb 8
WCC 11
Plt 130
U & E:
Na 130
K 3
Ur 12
Cr 100
Lipid profile:
Cholestrol 16
Triglyceride 8
Blood film:
spherocytosis

What is the most appropriate initial management for this patient?
1-Prednisolone
2-OGD
3-MRCP
4-Supportive management
5-Emergency surgery

Zieve syndrome is characterized by hepatic dysfunction, jaundice, hyperlipidaemia,

and reversible hemolytic anaemia after alcohol abuse.

Pathogenesis is not clear.

There is no specific treatment. Management is supportive.

hepatocellular carcinoma

1500 death per year UK, avarage age 66
5 years survival for both resection and transplantation is 50%
Surveillance using abdominal ultrasound and α-fetoprotein (AFP) estimation can detect HCC of a smaller size than those presenting without screening.

Surveillance for hepatocellular carcinoma should be considered in the following high risk groups:

- Males and females with established cirrhosis due to hepatitis B virus (HBV), particularly those with ongoing viral replication 

– Males and females with established cirrhosis due to HCV

– Males and females with established cirrhosis due to genetic haemochromatosis 

– Males with alcohol related cirrhosis who are abstinent from alcohol or likely to comply with treatment

– Males with cirrhosis due to primary biliary cirrhosis

If surveillance is offered, it should be six monthly abdominal ultrasound assessments in combination with serum AFP estimation. 

Diagnosis of HCC

A focal lesion in the liver of a patient with cirrhosis is highly likely to be HCC.

Initial assessment should be by spiral computed tomography (CT) of the liver (local spread) and thorax (metastases).

Magnetic resonance imaging (MRI) with contrast enhancement or angiography with lipiodol injection and follow up CT may increase the accuracy of detection of other liver lesions.

Biopsy is rarely required for diagnosis, and seeding of tumour in the needle tract occurs in 1–3%. Biopsy of potentially operable lesions should be avoided where possible

Treatment of HCC

The only proven potentially curative therapy for HCC remains surgical, either hepatic resection or liver transplantation, and patients with single small HCC (<5 cm) or up to three lesions <3 cm should be referred for assessment for these treatment modalities.

Milan criteria:
- single HCC less than 5 cm
- up to 3 nodules less than 3 cm
70% 5 years survival, 15% recurrence.

UK guidelines 2008:
- single tumour less than5 cm.
- up to 5 lesion all less than 3 cm.
- Single lesion more than 5 cm and less than 7 cm with no progression.

Liver transplantation should be considered in any patient with cirrhosis and a small (5 cm or less single nodule or up to three lesions of 3 cm or less) HCC

Patients with replicating HBV had a worse outlook due to HBV recurrence and were previously not considered candidates for transplantation. 

Effective antiviral therapy is now available and patients with small HCC, as defined above,

should be assessed for transplantation.

Hepatic resection should be considered as primary therapy in any patient with HCC and a non-cirrhotic liver (including fibrolamellar variant).

Resection can be carried out in highly selected patients with hepatic cirrhosis and well preserved hepatic function (Child-Pugh A) who are unsuitable for liver transplantation.

Non-surgical management

Non-surgical therapy should only be used where surgical therapy is not possible.

Locoregional therapies:

- Percutaneous ethanol injection (PEI):
has been shown to produce necrosis of small HCC.
It is best suited to peripheral lesions, less than 3 cm in diameter.
Respose rate > 80% in tumours <3 cm="" p="">

- Radiofrequency ablation(RFA):
may be a good alternative ablative therapy but data are limited.
Better local control but techniqualy difficult and more side effects

- Chemoembolisation :
Can produce tumour necrosis and has been shown to affect survival in highly selected patients with good liver reserve.
Chemoembolisation using lipiodol is effective therapy for pain or bleeding from HCC.

-,Systemic chemotherapy with standard agents has a poor response rate and should only be offered in the context of trials of novel agents.

- Hormonal therapy with tamoxifen has shown no survival benefit in controlled trials and is not recommended.

HCC. Arterial hypervascularity and venous or delayed phase washout

BSG Guideline here

Question

A 52-year-old woman presents with known history of liver cirrhosis and ascites due to chronic alcoholism and HCV. Her current medications are spironolactone, furosemide, and a vitamin supplement. She presents to ER with worsening abdominal pain that started last night, associated with low-grade fever, but no nausea, vomiting, or changes in the bowel movements. On physical exam, BP 115/70, HR 94 and regular, and temperature is 38.2°C. She has spider angiomas scattered across her upper chest, no asterixis, and no change in mental status. Abdomen is diffusely distended with full flanks, nontender, and no evidence of rigidity or rebound tenderness. Bowel sounds are audible but decreased.

Laboratory evaluation:

Leukocyte count 4,200/μL (normal 4,000-10,000/μL)

Platelet count 55,000/μL (normal 150,000-350,000/μL)

INR 1.3

Serum albumin 2.7g/dL (normal 3.5-5.5g/dL)

Serum creatinine 0.8 mg/dL (normal 0.7-1.3 mg/dL)

Serum total bilirubin 1.3 mg/dL (normal 0.3-1.2 mg/dL)

Ascitic fluid analysis:

Albumin 1.2 g/dl

Glucose 112 mg/dl

Lactate dehydrogenase 140 mg/dl (less than upper limit for serum level)

Neutrophils 850/Ul

Culture results are pending.

What is the most appropriate next step?

A. Surgical evaluation

B. Repeat paracentesis

 C. Ceftriaxone plus IV albumin

D. Observation until culture results are available

 E. Treatment with oral ofloxacin

question

An 81-year-old frail man was admitted with a stroke and after eight days of being nil by mouth nasogstric feeding is commenced. Following the commencement of feeding after previous starvation which biochemical abnormality is the most likely cause of his drowsiness?

1-hyperglycaaemia

2-hypermagnesaemia

3-hypernatraemia

4-hypocalcaemia

5-hypophasphataemia

Short-bowel syndrome

Short-bowel syndrome is a disorder clinically defined by malabsorption, diarrhea, steatorrhea, fluid and electrolyte disturbances, and malnutrition. The final common etiologic factor in all causes of short-bowel syndrome is the functional or anatomic loss of extensive segments of small intestine so that absorptive capacity is severely compromised. 

After massive enterectomy in humans, the intestine adapts to ensure more efficient absorption per unit length. The main change is manifested as an increase in villous diameter and height which effectively increases the absorptive surface area. This process, termed adaption, is believed to start after surgery and continue for approximately 2 years. This adaptive mucosal hyperplasia occurs only if nutrients are present in the intestinal lumen. Thus, luminal nutrients are the most potent stimulus to intestinal adaptation.

short bowel syndrome depend on several factors:
-the length of the bowel removed
-the location of the bowel resected
-the integrity of the bowel remaining
-the presence of the colon

The lenght and location of the small bowel resected affect the enterohepatic circulation of the bile.
Typically, bile salts are reabsorbed in the terminal ileum,

 if less than 100 cm of the ileum is resected, the liver can compansate for the loss absorptive capacity by producing an increased amount of bile salt, which enter the colon and cause bile-irretant diarrhea.
this diarrhea is treated with chelstyramine, which bind the excess salt and improves diarrhea.

 if more than 100 cm of the small bowel is resected, including the terminal ileum, the liver can no longer compansate, this result in bile salt deficincy and steatorrhea.
this can managed by precribing diet that contains medium chain triglycerides.

When the jejunum is resected, the ileum is able to assume all the functions of the jejunum, however the opposite is not true, the jejunum is not able to compansate for the loss of the space specilaized function of the iluem.

ileal resection result in:
-diarrhea, from either excess or deficiency of bile salts
-B12 deficiency
-SIBO, from resection of the ileo-caecal valve
-gallstones, from disruption of the cholestrol pool
-calcium oxalate kidney stones

Early amagement of short bowel syndrome includes:
aggressive treatment with antidiarrheal agents
TPN
gastric acid suppression

later management includes:
low fat enteral diet, with progressive increase in charbohydrate
medium chain triglyceride
lactose restriction
treatment of bacterial overgrowth if present

Teduglutide (Gattex), an analog of naturally occurring glucagon-like peptide-2 (GLP-2), was approved by the FDA in December 2012 for adults with short-bowel syndrome who are dependent on parenteral support. 

Somatropin (Zorbtive) is a recombinant human growth hormone is indicated to treat short-bowel syndrome in conjunction with nutritional support.

BSG Guidelines here

HRM interpretation

1- Hypotensive lower oesophageal sphincter and perstaltic contraction:
Distal oesophageal peristalitic wave amplitude < 30 mmHg
Semultaneous contractions with amplitude < 30 mmHg
Failed peristalsis in which the peristaltic waves does not traverse the entire length of the distal oesophagus.

2- Nutcraker oesophagus, hypertensive contration:
Perstalitic waves with mean amplitudes > 2 SD above normal.
Manometric features:
1- Mean distal oesophageal peristalitc wave of amplitude > 18 mmHg.
2- Long duration of peristaltic contracture
3- Resting LOS is usually normal but may be elevated.

3-Diffuse oesophageal spasm:
Uncoordinated spastic activity in the smooth muscle portion of the oesophagus.
Reptitive and prolong contraction > 6 sec , high amplitude > 180 mmHg.
Manometric features:
1- Spontaneous contracture
2- Repetitive contracture
3- Multiple peaked contractions
4- Intermittent normal perstalesis.

4-classic achalasia:

Aperstalesis of the oesophagus

Failure of relaxation of the LOS on iniatation of the swallowing.

Degenerative lesion of the vagus

Decrease gangilionic cells in the myentric nerve pluses of the oesophageal wall.

The degenerative process involve preferentially the NO, which produce inhibitory neurones that relaxes the sooth muscles of the oesophagus.

Swallow is followed by either no discernible activity in the oesophageal body or by simultaneous oesophageal contraction of low amplitude < 40 mmHg.

Manomertric features:

1- absence of complete LOS relaxation

2- Simultaneous contraction within the oesophageal body

3- Low amplitude of oesophageal contraction

4- Increase tone in LOS

5- Resting intra oesophageal press > intra gastric press