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The Gastroenterology Training Handbook
For Specialist Registrars
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home -
Miscellaneous -
Rheumatological Disease -
HHT
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Written by Dr Sebastian Zeki
MCQs for this page
HHT
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Cerebral AVMs
These are telangiectasias and AVM’s on the cerebrum or spinal cord.
Cerebral AVMs affect 10 % of HHT patients and are usually silent.
Bleeding is less likely than in non-HHT cerebral AVMs, in part due to the lower
frequency of associated aneurysms.
It may be wise to screen for cerebral AVM's with MRI.
Treatment involves embolectomy, surgical removal, or stereotactic radiotherapy.
Epistaxis
This is the most common clinical manifestation.
It is usually the first sign-appears in childhood.
If severe, it may need packing.
Gastrointestinal bleeding
This occurs in 30%.
Patient are usually over 40.
Iron deficiency in HHT is more likely due to epistaxis.
Telangiectasia occurs most commonly in the stomach and duodenum.
Patients also get arteriovenousmalformations (AVMs) and aneurysms.
Mucocutaneous telangiectasia
This occurs in
75%.
It presents after the age of 20.
It increases in size and number with age.
Pulmonary AVMs
These are usually symtpomatic after puberty.
These communicate between pulmonary and
systemic circulations, leading to hypoxaemia.
They are asymptomatic in 2/3rds.
They can result in paradoxical emboli.
They can cause a haemothorax or haemoptysis- this
usually occurs in pregnancy.
They may be associated with an increased incidence
of
migraines.
Treatment: involves embolotherapy.
Hepatic involvement
This occurs in 30 % - it is usually silent.
Patients can get
CHF,
PHTN, and biliary disease, depending on vascular
involvement.
Curacao diagnostic criteria
1. Spontaneous and recurrent epistaxis
2.Multiple mucocutaneous telangiectasias
3.Visceral involvement (eg, gastrointestinal, pulmonary, cerebral, or hepatic AVMs)
4. A first-degree relative with HHT
Confirmed by genetic testing
Screening:
1. Screening for cerebral AVMs- not recommended as no treatment
2. Screening of family members- genetic testing/ pumonary AVM testing +/- cerebral AVM testing
Bleeding Management
Avoid cauterisation as get vascular regrowth.
-50 mcg of ethinylestradiol + 1 mg norethisterone po can be useful.
- A 0.1 % estriol ointment applied twice daily to the nasal mucosa is beneficial.
-"Hormone replacement" range oestrogens: (>625 mincrog/day ethinylestradiol
equivalent) have some benefit.
Antifibrinolytics such as tranexamic acid and aminocaproic acid can be useful.
Antiestrogens such as tamoxifen may be useful.
Angiogenesis inhibitors: (eg the
VEGF
antagonist bevacizumab) are under
investigation.
5 major gene products implicated
Over 600 mutations found
HHT-1
HHT-2
Chromosome 9:
2 major disease genes on (ENG, protein
product: endoglin)
Chromosome 12
(ACVRL1, protein product: activin receptor-like
kinase 1, ALK-1).
Chromosomes 5
(HHT3)
and 7
(HHT4).
Modulate signalling
via (TGF)-beta
Endoglin and ALK-1 are
transmembrane
glycoproteins on
vascular endothelial
cells.
Pulmonary and cerebral AVMs
are more common in HHT1
Hepatic AVMs, hepatic AVM- associated
pulmonary hypertension and pulmonary
arterial hypertension are more common in
HHT2.
Endoglin
ALK-1
Incidence
It is 1:8000.
It is higher in Afro-Caribbean residents of Curacao and Bonaire- 1:1330
Management In Pregnancy
Pregnancy is usually safe but consider as high risk.
Epidurals are risky (risk of spinal AVM’s).
Avoid long 2nd stage if cerebral AVMs have not
been excluded.
Hereditary Haemorrhagic Telangiectasia
Oestrogens-
PHTN and encephalopathy caused by
a. Hepatic artery- portal vein shunt can cause
b. Increased sinusoidal blood flow with enhanced deposition of fibrous
tissue and pseudocirrhosis of the liver.
Dx: CT, MRI, Doppler ultrasonography, or angiography.
Treatment: Do not embolize as get fatal hepatic necrosis
If get liver failure or heart failure, need a liver transplant
Written by Dr Sebastian Zeki
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