Telangiectasias a case report, a review, and available resources

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Telangiectasias- a case report, a review, and
available resources

• Carl S. Steinberg, D.O.
• Karen Malone, LCSW
• Max Bayard, M.D.
• September 11, 2004

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CASE REPORT

• Patient is a 33 year old WM who was diagnosed
  with HHT of the small intestine in 1995. He has
  a history of chronic iron deficiency anemia from
  occult GI bleeding. He has required multiple
  transfusions in the past, almost on a monthly
  basis. Recently on 21 June 2004 he presented with
  a hemoglobin of 4.2

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CASE REPORT

• Presents with lethargy, headache, and malaise.
• Previous small bowel resection
• Recurrence in other areas
• Current location precludes endoscopic treatment
• Prior to this time, his only viable treatment
  consists of repeat transfusions.

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Definition

• Hereditary Hemorrhagic Telangiectasia (HHT, or
  Rendu-Osler-Weber syndrome)
• Autosomal dominant
• Prevalence is 1-2/5000
• Both sexes
• All racial and ethnic groups

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HISTORY

• In 1896, Dr. Rendu first recognized the
  combination of hereditary epistaxis and
  telangiectases as a specific entity distinct from
  hemophilia. Ten years later, a number of case
  reports emerged, including the prominent ones by
  Drs. Osler and Weber, whose names appear in
  various order as an eponym for this condition.

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PATHOPHYSIOLOGY

• The recognized manifestations of HHT are all due
  to abnormalities of vascular structure.
• The smallest of the hallmark telangiectases are
  focal dilatations of post-capillary venules, with
  prominent stress fibers in pericytes along the
  luminal border.
• In fully developed telangiectases, the venules
  are markedly dilated and convoluted, extend
  through the entire dermis, have excessive layers
  of smooth muscle without elastic fibers, and
  often connect directly to dilated arterioles.

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PATHOPHYSIOLOGY

• Telangiesctases are nearly universal, but the
  other prominent lesions of HHT are arteriovenous
  malformations.
• Seen only in certain forms of HHT
• Lack capillaries
• Direct connections between arteries and veins
• Much larger.

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MANAGEMENT

• When AVMs occur in the lung and brain they can be
  particularly catastrophic
• sudden morbidity or death.
• Pre-symptomatic intervention in such cases may
  substantially affect outcome
• Family history is key
• If positive, pulmonary screening should be
  undertaken, to start at puberty or sooner and
  again at the end of adolescence.

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MANAGEMENT

• Pulmonary AVMs
• Usually located near lung base
• Greatest deoxygenation will occur when standing
• ABGs and pulse oximetry may be most sensitive
  when obtained upright
• If a pulmonary AVM is found by spiral CT, repeat
  exams should occur every five years to check on
  growth or further AVM formation.

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MANAGEMENT

• Also, if family history is positive for cerebral
  AVM, screening with MRI should be performed at
  least once, preferably in childhood. Even
  persons at low risk for such malformations are at
  high risk for cerebral abscesses and stroke if a
  pulmonary AVM is present.

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MANAGEMENT

• Treatment modalities are generally invasive. For
  pulmonary manifestations, prior thoracotomy with
  lobectomy has progressed to wedge resection to
  ligation of the arterial supply to catheter
  embolotherapy.
• For CNS lesions, treatment involves neurosurgery,
  embolotherapy, and stereotactic radiosurgery.
• GI lesions require transfusions,
  photocoagulation, and possible treatment with
  estrogen-progesterone.

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MANAGEMENT

• Anyone with a pulmonary AVM should receive
  antibiotic prophylaxis at the time of any dental
  or surgical procedure.
• It is important that anyone with the diagnosis of
  HHT be aware of the implications, as well as
  informing any health care providers.

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FUTURE DIRECTIONS

• In the future, the development of a functional
  assay to provide pre-symptomatic diagnosis
  appears possible.
• Advances to include gene replacement therapy may
  be a realistic possibility given the ease of
  access through the bloodstream to endothelial
  cells-the target tissue.

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FUTURE DIRECTIONS

• Better understanding of HHT may also bring
  insights into other diseases involving vascular
  damage and repair.
• As Osler wroteTo wrest from nature the secrets
  which have perplexed philosophers in all ages, to
  track to their sources the causes of disease, to
  correlate the vast stores of knowledge, that they
  may be quickly available for the prevention and
  cure of disease-these are our ambitions.