Clinical manifestations and treatment
These are small red dots (dilations of capillary vessels) that usually appear on the skin and tend to increase in number and size with age. The most common areas are on the palms of the hands, nail beds, lips, tongue and face.
Treatment: Telangiectases can be removed surgically using laser or sclerosis or by applying a topical cream whose active principle is Timolol.
This is the most frequent symptom, referred by more than 90% of patients starting at an early age and increasing in frequency & intensity over the years. Some patients have sporadic and small epistaxis whilst others experience heavier bleeds requiring repeated blood transfusions. This variability is also found in different stages of a patient’s life, for example in puberty or pregnancy.
Treatment: Different treatments have been used, none of them fully satisfactory; septal dermoplasty, local ablation of talangiectases with different types of lasers, arterial embolisation and local and systemic treatments have been used. In general, all of them tend to obtain a transitory improvement, with epistaxis reappearing with time. Cases of very good response to anti-fibrinolytics (tranexamic acid) and hormonal treatments or estrogen receptor modulators have been reported in women. Antioxidants and some immuno-suppressants are also included in the therapeutic options, with a very variable response. Another method that is having a very good response and acceptance among patients is the technique of intra-nasal sclerotherapy with etoxisclerol, a substance that collapses the telangiectases, for its speed of action, for not altering the nasal mucosa, for being little pain and applied on an outpatient basis. As far as the nasal mucosa is concerned, it must be as conservative and treat the nasal mucosa as exquisitely as possible, keeping it hydrated at all times and away from harmful environments.
In severe cases where no other treatment is possible, Young’s definitive nasal occlusion or technique is required.
Lung & Brain AVMs
40% of patients have AVMs in the lungs and / or brain. These are the most dangerous manifestations of HHT because they may cause haemorrhage, strokes, or brain abscesses.
Treatment of Pulmonary AVMs: The treatment of choice is embolisation. It should be performed on all AVMs larger than 3 mm. Complications are rare and minor in expert hands. As PAVMs may re-appear, the patient is screened regularly.
Finally, given the increased risk of brain abscesses in these patients, antibiotic prophylaxis should be performed before dental or instrumental manipulations. This should be used even if the patient has been treated successfully for the above.
Treatment of Cerebral AVMs: With respect to treatment, the problem is that we do not know the natural history of the evolution of these lesions, so it is not clear whether we should treat asymptomatic CAVMs. At present, treatment indications are considered to be the same as in undiagnosed HHT patients. In case of deciding not to treat them, it is recommended to follow up with magnetic resonance every 1-3 years, given the possibility of growth of the malformations, as has been proven to occur in other organs (lung).
The therapeutic options are micro-surgery, stereotactic radio-surgery (for lesions smaller than 3 cm in diameter) and embolisation, with the choice of one or the other or its combination depending on the characteristics of the lesions, their location, number, etc.
GI – Gastro-Intestinal
AVMs are often present in the gastrointestinal tract. They may bleed continuously and are difficult to locate and treat.
Treatment: Treatment is symptomatic, with oral ferro-therapy (iron treatment) and blood transfusions when necessary. In case of acute bleeding, sclerotherapy or local ablation of the lesions with different types of laser has been used and surgery is necessary if these techniques are not successful.
Different drugs have been tried orally such as estrogen-progesterone (female hormones), danazol and aminocaproic acid, with mixed results.
Patients are usually asymptomatic and show no alterations in liver function tests. Three serious clinical patterns have been described when there are symptoms:
- High cardiac output (the most frequent)
- Portal hypertension
- Biliary involvement
Treatment: With regard to treatment, embolisation or ligation of the hepatic artery has been used. But because of the need to carry out several embolisation sessions and the risk of death due to acute liver failure which treatment would ensue, these techniques are discouraged until their safety is clarified.
For now, liver transplantation is the only therapeutic option for symptomatic patients, several of which have been carried out successfully.