Rendu-Osler-Weber Syndrome: Case Report and Literature Review

Overview

Rendu-Osler-Weber Syndrome (Hereditary Hemorrhagic Telangiectasia, HHT) is a rare genetic disorder.
Characterized by fragile blood vessels leading to bleeding, especially in the skin and mucosa.
Autosomal dominant inheritance but 20% of cases have no family history.
Incidence: 1-2 per 100,000 globally.
Common manifestations: recurrent epistaxis (nosebleeds), telangiectasia on face, hands, and oral cavity, arteriovenous malformations (AVMs) in various organs.
No definitive cure; treatments aim to manage symptoms and complications.

Recurrent epistaxis.
Telangiectasia (multiple, in characteristic sites like lips, oropharynx, fingers, nose).
Visceral lesions (gastrointestinal telangiectasia, pulmonary, hepatic, brain, and spinal AVMs).
Family history of HHT.

Patient: C.L.S., 53-year-old male with a 15-year history of mild recurrent epistaxis, worsening recently.
Symptoms: Frequent epistaxis, hemangiomas over body, hypertensive.
Family History: Father with mild repetition epistaxis, grandson with mild epistaxis.
Physical Exam: Telangiectasia across body and nasal lesions observed.
Treatment: Initial nasal packing and blood transfusion; nasal lesion cauterization; maxillary artery embolization.
Outcome: Improved intensity of epistaxis, ongoing follow-up for anemia, and referred to specialists for evaluation.

Genetic Basis: Dominant autosomal transmission, often involving genes like Endoglin (ENG) and ACVRL-1.
Histopathology: Submucosal vessel increase, endothelial cell degeneration, vascular malformations.
Endothelial Cell Types: Normal, degenerative, cuboidal.
Histological Changes: Reduplication of basal lamina, loss of elastic fibers.

Nasal: 80% experience recurrent epistaxis, severity varies.
Skin: Macular telangiectasia, manifest in third decade.
Pulmonary: AVMs cause right-to-left shunt, symptoms in third/fourth decades.
Cerebral: Linked with pulmonary AVMs; potential for serious complications like stroke.
Gastrointestinal: Recurrent bleeding, primarily in fifth/sixth decades.
Liver: Rare involvement, may lead to congestive heart failure.

Skin Lesions: Laser ablation for cosmetic or frequent bleeding.
Pulmonary AVMs: Prefer embolization over surgery.
Gastrointestinal Bleeding: Estrogen/progesterone therapy, aminocaproic acid.
Liver Malformations: Conservative treatment; surgical/embolization have high mortality.
Neurological Issues: No consensus, treatment based on case specifics.
Epistaxis Management:
- No standard treatment; varies from nasal packing to hormone therapy.
- Dermoseptoplasty or Young's procedure for severe cases.
- Hormonal therapies have significant side effects.

HHT is a multisystemic disorder, primarily presenting as repetitive epistaxis.
Otorhinolaryngologists should be aware of this condition to ensure timely diagnosis and management.
Comprehensive understanding and documentation of cases are essential for developing effective treatment standards in the future.