The clinical picture of recurrent bleeding with a strong family history suggestive of an autosomal dominant inheritance pattern is consistent with Osler-Weber-Rendu syndrome. Otherwise known as hereditary hemorrhagic telangiectasia (HHT), Osler-Weber-Rendu is characterized by arteriovenous malformations (AVMs) of the skin and mucous membranes.
HHT is an autosomal dominant disorder that results in abnormal blood vessel formation. Clinically, it presents often as recurrent epistaxis. Often, there are mucocutaneous telangiectasias characteristically found on the lips, oral cavity, fingers, and nose. HHT can also result in a catastrophic events such as sudden death, stroke, or pulmonary hemorrhage, depending on the location of AVMs.
As discussed by Olitsky et al., the symptoms of HHT can often go unrecognized, even in patients with affected family members. The diagnosis of HHT is clinical, based on the presence of 3 of 4 criteria: epistaxis, telangiectasias, visceral AVMs, or family history of the disease.
Kjeldsen et al. evaluated screening for pulmonary AVMs in patients with HHT. They found that 15-30% of patients with HHT were affected with pulmonary AVMs and recommend that the disorder be considered in any patient diagnosed with a pulmonary AVM because 70% of these occur in patients with HHT.
Illustration A shows multiple telangiectasias on the skin, tongue, and buccal mucosa.
Answer 1: Retinal hemangioblastomas are tumors of the central nervous system that originate from the vascular system. They are often associated with Von Hippel-Lindau syndrome.
Answer 2: Renal cell carcinoma is a kidney cancer that originates in the lining of the proximal convoluted tubule. It is also associated with Von Hippel-Lindau syndrome.
Answer 4: Vestibular schwannomas, also called acoustic neuromas, are benign primary tumors of the myelin-forming cells of the vestibulocochlear nerve. Bilateral vestibular schwannomas are associated with neurofibromatosis type II.
Answer 5: Cafe-au-lait spots are pigmented macules that can be associated with number of different clinical syndromes including neurofibromatosis type I, tuberous sclerosis, Noonan syndrome, and Wiskott–Aldrich syndrome.
Olitsky SE. Hereditary hemorrhagic telangiectasia: diagnosis and management. Am Fam Physician. 2010 Oct 1;82(7):785-90. PubMed PMID: 20879701.
PMID:20879701 (Link to Abstract)
Kjeldsen AD, Oxhøj H, Andersen PE, Elle B, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest. 1999 Aug;116(2):432-9. PubMed PMID: 10453873.
PMID:10453873 (Link to Abstract)