Esophageal Scleroderma

Published on 13/07/2015 by admin

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Last modified 22/04/2025

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GI tract, lungs, heart, kidneys, and nervous system

• GI: 3rd most common manifestation after skin changes and Raynaud phenomenon

Seen in up to 90% of patients

Most common sites

– Esophagus > duodenum > anorectal > small bowel > colon

• Interstitial pulmonary fibrosis, often severe

• Scleroderma is classified into 2 types

Diffuse scleroderma and CREST syndrome

• Diffuse scleroderma

Cutaneous and visceral involvement

– Often severe

• CREST syndrome: Minimal cutaneous and late visceral

C: Calcinosis of skin

R: Raynaud phenomenon

E: Esophageal dysmotility

S: Sclerodactyly (involvement of fingers)

T: Telangiectasia

• Esophagography

Atony or aperistalsis: Lower 2/3 (smooth muscle)

Mild to moderate dilatation of esophagus

Patulous lower esophageal sphincter (early)

Ulcers, fusiform peptic stricture (later)

Gastroesophageal reflux (70% of patients)

40% develop Barrett esophagus

TOP DIFFERENTIAL DIAGNOSES

• Esophageal achalasia

• Reflux esophagitis (with stricture)

• Esophageal carcinoma

• Iatrogenic

(Left) Upright film from an esophagram in a 29-year-old woman with dysphagia and shortness of breath shows a dilated, atonic esophagus with a distal esophageal stricture . Esophageal peristalsis was completely absent.

(Left) Upright film from an esophagram in a 29-year-old woman with dysphagia and shortness of breath shows a dilated, atonic esophagus with a distal esophageal stricture . Esophageal peristalsis was completely absent.

(Right) Chest CT in the same patient shows interstitial fibrosis and a massive dilated esophagus , all findings due to scleroderma.

(Right) Chest CT in the same patient shows interstitial fibrosis and a massive dilated esophagus , all findings due to scleroderma.

(Left) Film from an esophagram in a young woman with dysphagia shows a dilated esophagus with a persistent air-fluid level, indicating delayed emptying. There is stricture of the distal esophagus .

(Left) Film from an esophagram in a young woman with dysphagia shows a dilated esophagus with a persistent air-fluid level, indicating delayed emptying. There is stricture of the distal esophagus .

(Right) Subsequent film in the same patient shows a dilated duodenum with functional narrowing of its 3rd portion. The duodenum is often dilated and atonic in patients with scleroderma.

TERMINOLOGY

Synonyms

• Progressive systemic sclerosis

Definitions

• Multisystem disorder of small vessels and connective tissue (collagen vascular disease) of unknown etiology

IMAGING

General Features

• Best diagnostic clue

Dilated atonic esophagus with distal stricture (late findings)

• Other general features

Multisystemic disorder with immunologic and inflammatory changes

Characterized by atrophy, fibrosis, and sclerosis of skin, vessels, and organs

Involves skin, synovium, and parenchyma of multiple organs

– Gastrointestinal tract, lungs, heart, kidneys, and nervous system

Gastrointestinal (GI) tract scleroderma

– 3rd most common manifestation after skin changes and Raynaud phenomenon

– Seen in up to 90% of patients

– Most common sites: Esophagus > duodenum > anus/rectum > small bowel > colon

– Most frequent cause of chronic intestinal pseudo-obstruction

Scleroderma is classified into 2 types

– Diffuse scleroderma

– CREST syndrome (more benign course)

Diffuse scleroderma: Cutaneous and visceral involvement

– Interstitial pulmonary fibrosis, often severe

– Organ failure more likely

– Associated with antitopoisomerase 1 antibody (anti-Scl 70)

CREST syndrome: Minimal cutaneous and late visceral involvement

– C: Calcinosis of skin

– R: Raynaud phenomenon

– E: Esophageal dysmotility

– S: Sclerodactyly (involvement of fingers)

– T: Telangiectasia

– Associated with anticentromere antibodies

Radiographic Findings

• Fluoroscopic-guided esophagography

Normal peristalsis above aortic arch (striated muscle)

Atony or aperistalsis: Lower 2/3 (smooth muscle)

Mild to moderate dilatation of esophagus

Patulous lower esophageal sphincter (LES)

– Early finding of scleroderma

Erosions, superficial ulcers, fusiform peptic stricture

– Due to reflux esophagitis

Gastroesophageal reflux (70% cases)

– 40% develop Barrett esophagus

Hiatal hernia

• Upper GI series

Stomach: Gastric dilation and delayed emptying

• Small bowel follow-through

Duodenal dilation

– Often mimics SMA syndrome

– Abrupt transition to nondilated duodenum after crossing over spine in midline

Pathognomonic: Hidebound sign

– Dilated jejunum with crowded, thin, circular folds

– Seen in > 60% cases of scleroderma-related pseudo-obstruction

– Due to muscle atrophy and its uneven replacement by collagen in longitudinal fibers + intense fibrosis of submucosa

Wide-mouthed sacculations (true diverticula) on antimesenteric border

Prolonged transit time with barium retention in duodenum and small bowel up to 24 hours

± pneumatosis intestinalis ± pneumoperitoneum

– Can be due to steroid medication plus dilated bowel lumen

± transient, nonobstructive intussusceptions

• Barium enema

Sacculations on antimesenteric border of colon

Marked dilatation (simulates Hirschsprung disease)

Chronic phase: Complete loss of haustrations

– Simulates cathartic colon or chronic ulcerative colitis

Stercoral ulceration (from retained fecal material)

DIFFERENTIAL DIAGNOSIS

Esophageal Achalasia

• Grossly dilated esophagus with smooth, beak-like tapering at lower end

• Scleroderma shows moderate dilatation of esophagus with fusiform stricture

Reflux Esophagitis (With Stricture)

• Longer tapered distal stricture

• Less luminal dilation

• Distinguished from scleroderma by normal peristalsis

Esophageal Carcinoma

• Abrupt proximal borders of strictured segment (“rat tail” appearance)

• Mucosal irregularity, shouldering, mass effect

Iatrogenic

• e.g., fundoplication and vagotomy

Tight wrap narrows esophageal lumen

Vagotomy, scarring decrease peristalsis

PATHOLOGY

General Features

• Etiology

Unknown; autoimmune condition with genetic predisposition

May be initiated by environmental antigens like silica and L-tryptophan

Immunologic mechanism (delayed hypersensitivity)

– Increased production of cytokines (TNF-α or IL-1) → collagen production

– Vascular damage and activation of fibroblasts

• Genetics

Localized: Anticentromere antibodies associated with HLA-DR1, HLA-DR4, and HLA-DR5

Diffuse: Antitopoisomerase 1 antibodies (anti-Scl 70) associated with HLA-DR5

• Associated abnormalities

Systemic lupus, polymyositis, or dermatomyositis

Gross Pathologic & Surgical Features

• Rubber-hose inflexibility: Lower 2/3 of esophagus

• Thin and ulcerated mucosa

• Dilated gas and fluid-containing small bowel loops with sacculations

Microscopic Features

• Perivascular lymphocytic infiltrates

• Early capillary and arteriolar injury

• Atrophy and fragmentation of smooth muscle → collagen deposition and fibrosis

CLINICAL ISSUES

Presentation

• Most common signs/symptoms

Esophagus

– Dysphagia, regurgitation

– Epigastric fullness and burning pain

Small bowel

– Bloating, abdominal pain

– Weight loss, diarrhea, anemia

Colon

– Chronic constipation

• Lab data

Increased erythrocyte sedimentation rate (ESR)

Iron, B12, and folic acid deficiency anemias

Increased antinuclear antibodies (ANA)

CREST syndrome: Anticentromere antibodies

Diffuse scleroderma

– Antitopoisomerase 1 antibody

Demographics

• Age

Onset usually by 30-50 years

• Gender

M:F = 1:3

• Ethnicity

African American > Caucasian

• Epidemiology

Incidence: ∼ 20 cases per million adults in USA

Prevalence: 200 per million adults

Natural History & Prognosis

• Complications

Barrett esophagus → adenocarcinoma

Bowel pseudo-obstruction

• Prognosis

Limited disease with ANA bodies: Good prognosis

Diffuse disease: Poor with involvement of kidneys, heart, and lungs rather than GI tract

Treatment

• Small, frequent meals; elevation of head of bed

• Avoid tea and coffee

• Cimetidine, ranitidine, omeprazole

• Metoclopramide, laxatives

• Patients with severe malabsorption

Parenteral hyperalimentation

DIAGNOSTIC CHECKLIST

Consider

• Rule out other pathologies that cause distal esophageal stricture ± dysmotility

• Check for family history of collagen vascular diseases

Image Interpretation Pearls

• Mild to moderate dilatation of esophagus with distal fusiform stricture + decreased or absent peristalsis

(Left) Film from an esophagram in a 50-year-old man shows absence of primary peristalsis, with repetitive and deep tertiary contractions . The esophageal lumen is mildly dilated, and there is a stricture at the GE junction .

(Left) Film from an esophagram in a 50-year-old man shows absence of primary peristalsis, with repetitive and deep tertiary contractions . The esophageal lumen is mildly dilated, and there is a stricture at the GE junction .

(Right) Film obtained 2 hours after the esophagram in the same patient shows markedly delayed passage of the barium through the small bowel. The folds within the jejunum are thin and closely spaced , and the lumen is dilated with minimal peristalsis in this classic “hidebound” bowel.

(Right) Film obtained 2 hours after the esophagram in the same patient shows markedly delayed passage of the barium through the small bowel. The folds within the jejunum are thin and closely spaced , and the lumen is dilated with minimal peristalsis in this classic “hidebound” bowel.

(Left) A single film from a barium esophagram in a middle-aged woman with scleroderma shows a dilated, atonic esophagus with a tight stricture at the GE junction. The esophagus was slow to empty, even in the upright position, with a fluid-barium level seen .

(Left) A single film from a barium esophagram in a middle-aged woman with scleroderma shows a dilated, atonic esophagus with a tight stricture at the GE junction. The esophagus was slow to empty, even in the upright position, with a fluid-barium level seen .

(Right) A subsequent film in the same patient shows a markedly dilated 2nd part of the duodenum , with abrupt narrowing as it crosses the spine. The duodenum is the most frequently affected part of the GI tract beyond the esophagus.

(Right) A subsequent film in the same patient shows a markedly dilated 2nd part of the duodenum , with abrupt narrowing as it crosses the spine. The duodenum is the most frequently affected part of the GI tract beyond the esophagus.

(Left) Film from an upper GI series shows reflux into the esophagus through a patulous GE junction . The esophagus had no primary peristalsis. These are relatively early signs of scleroderma, and no stricture or ulcerations have yet developed.

(Left) Film from an upper GI series shows reflux into the esophagus through a patulous GE junction . The esophagus had no primary peristalsis. These are relatively early signs of scleroderma, and no stricture or ulcerations have yet developed.

(Right) Supine film from an upper GI series in the same patient shows reflux of barium into the dilated esophagus .

(Right) Supine film from an upper GI series in the same patient shows reflux of barium into the dilated esophagus .

Single-contrast upper GI shows a dilated, atonic esophagus with patulous LES. The dilated duodenum abruptly narrows as it crosses the spine and is also due to scleroderma.

Air-contrast esophagrams show a markedly dilated esophagus and distal stricture due to scleroderma.

Single-contrast esophagram shows a short, smooth stricture with a dilated atonic esophagus.

Air-contrast esophagram shows a dilated, atonic esophagus with an air-contrast level and a long, smooth distal stricture in this patient with a small hiatal hernia with “short esophagus.”

Single-contrast esophagram shows a hiatal hernia, shortening of the esophagus, and a long. smooth distal stricture.

Two views from an air-contrast esophagram show an atonic, but not dilated esophagus at the patulous GE junction.

Axial NECT shows “honeycomb” lung in this patient with interstitial fibrosis due to scleroderma.

Upper GI shows a dilated, atonic esophagus with distal stricture. Note the underlying lung disease.

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