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ARCH SOC ESP OFTALMOL 2008; 83: 381-384
OPHTHALMOLOGIC DIAGNOSIS OF HEREDITARY
HEMORRHAGIC TELANGIECTASIA OR RENDU-OSLERWEBER DISEASE
DIAGNÓSTICO OFTALMOLÓGICO DE UN CASO DE
TELANGIECTASIA HEMORRÁGICA HEREDITARIA O
ENFERMEDAD DE RENDU-OSLER-WEBER
PIZZAMIGLIO-MARTÍN C1, GIL-CAZORLA R2, GUZMÁN-BLÁZQUEZ J3
ABSTRACT
RESUMEN
Case report: Our patient was a 45-year-old woman
who had recurrent episodes of hematic epiphora, repeated epistaxes for which no cause was found and a family
history of gastric hemorrhage. One of her daughters
also suffered from spontaneous hemorrhages.
Discussion: Hereditary hemorrhagic telangiectasia is
rarely diagnosed by an ophthalmologist; however the
occurrence of bloody tears occurring spontaneously in
a patient with epistaxis or gastric hemorrhage should
lead to suspicion of hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber disease. It should never
be forgotten that clinical examination and appropriate
investigations are basic components of disease diagnosis (Arch Soc Esp Oftalmol 2008; 83: 381-384).
Caso clínico: Mujer de 45 años con episodios recurrentes de epífora hemática espontánea. La paciente presentaba epistaxis de repetición no filiadas y,
tenía antecedentes familiares de hemorragia digestiva, además una de sus hijas sufría de epistaxis.
Discusión: El diagnóstico de telangiectasia hemorrágica hereditaria por oftalmólogos es un hecho
infrecuente. La presencia de lágrimas con sangre o
epífora hemática espontánea, en un paciente con
historia de hemorragias de repetición en forma de
epistaxis o hemorragia digestiva, nos tiene que
hacer sospechar y buscar la presencia de esta enfermedad. La historia y exploración clínica son fundamentales en el diagnóstico de dicha enfermedad.
Key words: Hereditary hemorrhagic telangiectasia,
Rendu-Osler-Weber disease, hemorrhage, hematic
epiphora.
Palabras clave: Telangiectasia hemorrágica hereditaria, enfermedad de Rendu-Osler-Weber, hemorragia, epífora hemática.
Received: March 8, 2007. Accepted: May 13, 2008.
1 Graduate in Medicine. Toledo Hospital Complex. Virgen de la Salud Hospital. Toledo. Spain.
2 Graduate in Optics-Optometrics. Vissum Ophthalmological Corporation of Madrid. Madrid. Spain.
3 Ph.D. in Medicine. Toledo Hospital Complex. Virgen de la Salud Hospital. Toledo. Spain.
Correspondence:
Carmen Pizzamiglio Martín
Urbanización Los Pajarillos, 6
28500 Madrid
Spain
E-mail: campizz@yahoo.es
PIZZAMIGLIO-MARTÍN C, et al.
INTRODUCTION
Hereditary hemorrhagic telangiectasia (HHT) or
Rendu-Osler-Weber disease is a hereditary autosomic dominant disease characterized by abnormalities in one or two genes (9q33-34 and 12q13 chromosomes) involved in repairing the vascular wall.
Telangiectasias are vascular dilations that spontaneously bleed from the smallest trauma.
There are different types of telangiectasias according to morphology: linear and spider (Table 1).
The location of the telangiectasias can guide us
toward finding the underlying pathology. Thus,
periungual telangiectasias are pathognomonic of
systemic lupus erythematous, scleroderma and dermatomyositis.
Telangiectasias may appear anywhere on the skin
and mucous membranes and are frequently seen on
the lips, tongue, face and the palm of the hand.
They first appear during childhood and grow larger
during adolescence and adulthood. There are some-
Fig. 1: Inferior subtarsal telangiectasias in RE.
times also small vascular dilations in the digestive
tract, genitals and urinary apparatus and central nervous system, which may erode and start bleeding.
HHT is a particular form of telangiectasia due to
its distribution and genetic pattern. These vascular
lesions typically appear in the nasal, oral and conjunctival mucosa, on the face and tips of the extremities, such as the fingernail beds. The clinical
signs and symptoms are determined by haemorrhagic episodes such as epistaxes and gastric bleeding.
Morphologically speaking telangiectasias are radial
and make up authentic arteriovenous malformations
in the mucous membranes.
CASE REPORT
A 45-year-old patient comes in for recurring episodes of «eye bleeding», and she mentions that she
«cries blood». The episodes spontaneously remit
without any sort of treatment.
The patient’s medical history reveals the presence of repeated epistaxes with no ear, nose and throat tests. There is no other pertinent personal systemic or ophthalmologic history. When delving deeper into the patient’s history, she mentioned that her
father suffered from repeated upper digestive bleeding. He died from this due to a massive haemorrhage and hypovolaemic shock. The patient also has
two daughters that have repeated epistaxes.
The biomicroscopic exam of the subtarsal conjunctiva, both superior and inferior, shows the existence of isolated telangiectatic lesions (Figures 13). One of the telangiectasias showed signs of
recent coagulation in connection with an associated
haemorrhagic event (fig. 4). The fundoscopy did
not show alterations in the vascular tree, with no
alterations in the arterial or venous vessel calibre,
Table I. Classification of telangiectasias
Primary or congenital
Secondary or acquired
General essential telangiectasias
Hemmorrhagic congenital Rendu-Osler-Weber telangiectasias
Louis-Bar athaxia telangiectasia
Congenital telangiectasic erithema or Bloom syndrome
Vascular spiders
Post traumatic
Due to physical agents: sunlight, radiations and cold
(Raynaud syndrome)
Drugs: topical fluorinated corticoids and oral contraceptives
Systemic diseases: dermatomiositis, systemic erithematous
lupus, sclerodermia, CREST syndrome, carcinoid syndrome, systemic mastocitosis (eruptive macular telangiectasia)
Pregnancy
Liver cirrhosis
Varicose veins and post-flebitic syndrome
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ARCH SOC ESP OFTALMOL 2008; 83: 381-384
Hereditary hemorrhagic telangiectasia, Rendu-Osler-Weber disease
Fig. 2: Inferior subtarsal telangiectasias in LE.
Fig. 4: Superior subtarsal telangiectasia with signs of
recent bleeding.
DISCUSSION
haemorrhaging phenomena, exudates or associated
neovascularizations.
The general examination of the patient showed
telangiectasias in oral and nasal mucosa, aside from
the telangiectatic lesions on the tongue and inside
the upper and lower lips (figs. 5-7).
Referral to the Otorhinolaryngology and Internal
Medicine Departments confirmed the presence of
telangiectasias in nasal and pharyngeal mucosa,
with none in the digestive mucosa. With all this
information, a diagnosis of Rendu-Osler-Weber
disease was made.
HHT was described at the end of the 19th century
in groups of relatives characterized by spontaneous
episodes of epistaxes, gastric haemorrhage, hae-
Fig. 3: Isolated superior subtarsal telangiectasia in RE.
Fig. 5: Telangiectasias in upper labial mucosa.
ARCH SOC ESP OFTALMOL 2008; 83: 381-384
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PIZZAMIGLIO-MARTÍN C, et al.
Fig. 6: Telangiectasias in lower labial mucosa.
Fig. 7: Telangiectasias on the tongue.
moptysis or haematuria. Such phenomena were
reported independently by three physicians: Rendu,
Osler and Weber. It was Hanes (1) who, in 1909,
established the diagnostic triad of hereditary haemorrhagic telangiectasia, i.e. family history, haemorrhages and telangiectasias.
Ocular involvement is not frequently seen (2) and
rarely constitutes the foundation for this diagnosis
(3), as in the case reported here. The ocular signs
and symptoms can be placed into two groups. On
one hand we have those found in the anterior segment, such as tears with blood, telangiectasias and
post haemorrhagic granulomatous lesions on the
conjunctiva, and on the other hand macular and
choroidal retinal telangiectasias (4).
A suspected diagnosis can be reached by looking
at the patient’s clinical situation. A full clinical
work-up requires endoscopic study of the digestive
mucosa and the ear, nose and throat. In our case,
since the patient came to our department first, an
examination of the oral and nasal cavities was performed and she was then referred to the Otorhinolaryngology and Internal Medicine Departments in
order to complete the diagnosis and continue with
the corresponding follow-ups.
This case shows us that, as with any disease with
vital implications from massive spontaneous haemorrhagic phenomena, it can go unnoticed by the
patient and the untrained physician.
The conjunctiva affected rarely requires treatment due to spontaneous self-limitation. In some
cases cauterization therapy has been used for telangiectasias (3).
In conclusion, the existence of spontaneous ocular haemorrhagic phenomena in the absence of culprit aetiological factors (5) (haemophilia, hysteria,
conjunctivitis, vascular tumours, trauma, granulomas, silver nitrate treatments and tear-duct haematic regurgitation) has to alert us to the possible existence of vascular abnormalities and lead us to take
a precise systemic medical history in search of haemorrhagic phenomena with the same characteristics
in other bodily structures.
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