Hereditary hemorrhagic telangiectasia - Revision history

Aidan: /* Differential Diagnosis */

2025-05-06T20:27:32Z

Differential Diagnosis

← Older revision		Revision as of 20:27, 6 May 2025
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	== Differential Diagnosis ==		== Differential Diagnosis ==
	* [[~~Bleeding~~ diathesis]]		* See also: [[bleeding diathesis]], [[telangiectasia]]

	== Investigations ==		== Investigations ==

Aidan at 16:30, 16 November 2021

2021-11-16T16:30:52Z

@@ Line 1: / Line 1: @@
-== Definition ==
+== Background ==
 * Autosomal dominant heritable disease resulting in a syndrome of artero-venous malformations in the skin (telangiectasia), lungs, brain, gut that predisposes to significant, life-threatening bleed
 * Also known as Osler-Weber-Rendu syndrome
-== Etiology ==
+=== Pathophysiology ===
 * Two most common genes are ''ENG'' and ''ECVRL1'', followed by ''SMAD4''
 * Prevalence of 1:10,000 in North America, though likely underdetected
-== Risk Factors ==
+=== Risk Factors ===
 * Family history
 == Diagnosis ==
@@ Line 37: / Line 57: @@
 * First-degree relative meeting the above criteria
 * Definite diagnosis when three or more of the above findings are present; possible/suspected when two findings are present
 == Management ==
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 * One-time screen with MRI and contrast echo
 * If contrast echo shows shunt, CT scan to assess AVMs
-* Possible abdo ultrasound or CT if suspicious for liver AVMs
+* Possible abdominal ultrasound or CT if suspicious for liver AVMs
 === Follow-up ===

Aidan: Text replacement - "Clinical Presentation" to "Clinical Manifestations"

2020-07-14T02:27:36Z

Text replacement - "Clinical Presentation" to "Clinical Manifestations"

← Older revision		Revision as of 02:27, 14 July 2020
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	* Definite diagnosis when three or more of the above findings are present; possible/suspected when two findings are present		* Definite diagnosis when three or more of the above findings are present; possible/suspected when two findings are present

	== Clinical ~~Presentation~~ ==		== Clinical Manifestations ==

	* History, focusing on epistaxis, bleeding, anemia, polycythemia, cardio/resp/liver/neuro diseases		* History, focusing on epistaxis, bleeding, anemia, polycythemia, cardio/resp/liver/neuro diseases

Maintenance script: Imported from text file

2020-07-04T01:17:38Z

Imported from text file

New page

== Definition ==

* Autosomal dominant heritable disease resulting in a syndrome of artero-venous malformations in the skin (telangiectasia), lungs, brain, gut that predisposes to significant, life-threatening bleed
* Also known as Osler-Weber-Rendu syndrome

== Etiology ==

== Pathophysiology ==

* Two most common genes are ''ENG'' and ''ECVRL1'', followed by ''SMAD4''

== Differential Diagnosis ==

* Bleeding diathesis

== Epidemiology ==

* Prevalence of 1:10,000 in North America, though likely underdetected

== Risk Factors ==

* Family history

== Diagnosis ==

* Nosebleeds (95%), usually starting in childhood occurring spontaneously and recurrently
* Telangiectases (95%), usually starting in young adulthood
** Lips, hands, and oral/nasal/gastric mucosa
** Blanchable, pink-red, and punctuate
* Ischemic stroke and brain abscesses, secondary to pulmonary shunting
* Visceral AVMs
** Upper GI bleeds (25%), usually after age 50
** Cerebral AVMs (10%), present at birth
** Pulmonary AVMs causing detecable shunt in about half
** Hepatic AVMs, often asymptomatic
** Spinal AVMs, rarely
* First-degree relative meeting the above criteria
* Definite diagnosis when three or more of the above findings are present; possible/suspected when two findings are present

== Clinical Presentation ==

* History, focusing on epistaxis, bleeding, anemia, polycythemia, cardio/resp/liver/neuro diseases
* Physical exam
** Oxygen saturation, including orthodeoxia
** Telangiectasis on fingers, ips, tongue, oropharynx, cheeks, conjunctiva
** Liver bruits
** High-output heart failure, from liver AVMs

== Investigations ==

* Labs
** CBC and ferritin, for anemia
** Genetic testing for ''ENG'' and ''ECVRL1''
* Imaging
** Contrast echocardiography for pulmonary shunt
*** If negative, repeat q5yr
*** If positive, proceed to CT chest q5yr
** Assesses location and size of PAVMs
*** Risk of new lesions goes down with age
*** Head MRI for cerebral AVMs once, preferably in infancy
*** Abdominal ultrasound or CT for hepatic AVMs

== Management ==

=== Principles ===

* Treat telangiectases/AVMs of skin, oral, GI, and liver symptomatically
* Treat AVMs in lungs and brain prophylactically
* Screen family members

=== Screening ===

* One-time screen with MRI and contrast echo
* If contrast echo shows shunt, CT scan to assess AVMs
* Possible abdo ultrasound or CT if suspicious for liver AVMs

=== Follow-up ===

* Annual evaluation to screen for new symptoms
* Periodic CBC for anemia
* Every 5 years, reassess for PAVMs with CT (if previous AVMs) or contrast echo (it not)
* Screening for GI polyps in ''SMAD4''-positive patients

=== Prophylaxis ===

* '''Always use IV with air filter'''
* If contrast echo positive for shunt, requires antibiotics with dental procedures
* Avoid antiplatelet medications

=== Treatment ===

==== Nosebleed ====

* Humidification and daily nasal lubricants
* Laser ablation, if mild to moderate
* Surgical treatment, if severe and refractory to above
* Avoid electric and chemical cautery
* Avoid embolization
* Oral contraceptive pill may decrease bleeding risk

==== GI bleeding ====

* Transfuse as needed
* Endoscopy or push enteroscopy
* Some small bowel sites may be amenable to surgical resection

==== Anemia ====

* Aggressive iron replacement, targetting a ferritin of greater than 50-100

==== Pulmonary AVMs ====

* Any >1-3mm should be considered for transcatheter embolization
* Follow-up CT at 6-12 months, then 5-yearly

==== Cerebral AVMs ====

* If >1cm, should be treated with neurosurgery, embolization, or stereotactic radiation

==== Hepatic AVMs ====

* No good options

[[Category:Respirology]]