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Clinical Manifestations of Hereditary Hemorrhagic Telangiectasia

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Clinical Manifestations of Hereditary Hemorrhagic Telangiectasia 0002-9270/84/7905-0363 rHE AMERICAN JOURNAL OF GASTROENTEROLOGY Vol, 79, No, 5. 1984 Copyright© 1984 by Am, Coll, of Gastroenterology Printed in U,S,A, Clinical Manifestations of Hereditary Hemorrhagic Telangiectasia Peter J. Reilly, M.D. and Timothy T. Nostrant, M.D. Department of Internal Medicine. Division of Gastroenterology. The University of Michigan. Ann Arbor. Michigan Sixty-four patients with symptomatie hereditary lated disease at the time of presentation, and 3) a family hemorrhagie telangieetasia were retrospectively studied history and/or personal history of episodic undiagnosed in order to determine the true incidence of clinical nasal or gastrointestinal hemorrhage. manifestations in this disease. This select group had a significantly higher incidence of gastrointestinal hem- RESULTS orrhage and pulmonary arterovenous fistula formation Fifty-six percent of the patients were male and 44% than has been previously reported. Data are presented were female. There was no relationship of sex to severity regarding the course and severity of nasal and gastroin- of illness or number of organ systems involved. The age testinal hemorrhage, the use of endoscopy for diagnosis, at diagnosis varied from 2 days to 85 years with a the incidence of associated neurological, cardiac, and median age of 44 years. Symptoms began at a median hepatic disease, and mortality. of 20 years before diagnosis (range 0-78 years). A family history compatible with the diagnosis of HHT was INTRODUCTION recorded in 74%. Hereditary hemorrhagic telangiectasia (HHT) is an Clinical manifestations (incidence) autosomal dominant inherited disease (1) characterized by telangiectasias ofthe skin, mucous membranes, and Table 1 lists the various clinical manifestations of various organ systems. Its clinical presentation is vari- patients at inital presentation. The most common sign able as regards both number of vascular lesions and was epistaxis with 78% of patients having this at some severity of organ dysfunction secondary to these lesions. time during their course, and 51% of patients having Telangiectasias have been described on all body sur- this sign at initial presentation. Gastrointestinal (Gl) faces, but are most common about the head, the ex- bleeding was second in overall frequency at 44%, and tremities, and the chest (2). They also occur in all parts this was the initial sign in 25%. The remaining patients ofthe alimentary tract (3), as well as the lungs (4), brain had a' wide range of complaints related to skin and (2), retina (5), and liver (6, 7). pulmonary lesions as well as CNS disease. Three pa- tients who presented with complaints unrelated to HHT Previous studies attempting to define the clinical were found to have HHT-related disease. manifestations of this disease included asymptomatic relatives of index cases (2, 4), thereby underestimating the incidence and severity of organ specific lesions. This TABLE 1 study was undertaken to define the manifestations of HHT: Presenting Manifestations (64 Patients) HHT in a symptomatic patient population to establish a more accurate estimate of the incidence and severity n % of these findings. This is the subset of patients that the Epistaxis 33 51 clinician is likely to see. Gl bleeding 16 25 Abnormal chest x-ray 3 5 METHODS Headache (brain abscess) 2 3 Seizure (CNS emboli) 2 3 The records of all patients seen at the University of Progressive skin lesions 2 3 Cyanosis 1 <2 Michigan affiliated hospitals and clinics (University (large pulmonary arteriovenous Hospital 1954-1980, Ann Arbor VA Hospital 1965- malformation with emboli) 1980, and Wayne County General Hospital 1970-1980) Transient ischemic attacks 1 <2 with the diagnosis of HHT were reviewed. Sixty four Abdominal pain, patients fulfilled the following requirements: 1) cuta- pulsatile right upper quadrant neous and mucosal telangiectasias, 2) active HHT re- Mass (hepatic AVM) 1 <2 363 364 REILLY AND NOSTRANT Vol. 79, No. 5, 1984 Skin and mucosal lesions 60r Telangiectasias were found most commonly on the hands and feet. The most frequent locations were the palms and soles of the feet, tips of the digits, as well as the subungual and periungual areas (Table 2). Although mucosal telangiectasias were seen at one time or an- other on the nasal mucosa of 78% of patients, these are 12 3 4 5 6 7 8 of little use diagnostically because of obscuration ofthe Decade of Life nasal mucosa related to recurrent epistaxis. No corre- FIG. 1. Epistaxis: age at onset. lation between the location of skin or mucosal lesions and GI hemorrhage was found. patients with major epistaxis underwent a total of 20 septal dermoplasty procedures. Of the 11 patients fol- Epislaxis lowed for 2-4 years, 60% had no beneficial effects while Epistaxis was not only the most common presenting 25% had reduction or cessation of bleeding. manifestation of HHT but also the most common symptom overall (78%). We divided the group into GI hemorrhage "minor" and "major" categories depending on the re- GI hemorrhage was the second most common pre- quirement for transfusion (minor = no transfusions, senting manifestation, and was present at some time in major = greater than or equal to one transfusion). 28 of the 64 patients (44%). Using the same minor/ Slightly more than one-third of all patients with epis- major classification scheme that was applied to epis- taxis had major hemorrhage (Table 3). More than one- taxis, a little more than half of the patients had major half developed epistaxis in the first decade of life (Fig. GI hemorrhage, which represents 25% of the entire 1). The course of epistaxis was progressive in 54% and series (Table 4). In contrast to epistaxis, the onset of GI static in 42%, the latter defmed as no change from the bleeding was usually in the fifth decade of life or later previous pattern of bleeding or transfusion require- (Fig. 2). To describe accurately the site of bleeding, the ments. Four percent had spontaneous regression of following criteria were applied: 1) upper GI bleeding bleeding. Ten patients with major epistaxis were treated was defined by hematemesis, a positive nasogastric with varying doses of estrogen, and ofthe these five had aspirate in the absence of epistaxis, or actively bleeding no sustained response while five had significant reduc- lesions found at the time of upper GI endoscopy; 2) tion or cessation of epistaxis for follow-up periods of lower GI bleeding was defined by hematochezia or 2-10 years. All of the estrogen-treated patients had actively bleeding lesions at sigmoidoseopy; 3) if criteria significant unpleasant symptoms related to therapy, 1 or 2 were not fulfilled, bleeding was considered in- primarily gynecomastia, and vaginal bleeding, but none determinate, e.g., melena with a negative endoscopy or had any recognizable major complications. Fourteen endoscopic visualization of nonbleeding telangiectasias. Eleven (40%) of 28 patients met the criteria for upper, TABLE 2 three (10%) for lower GI bleeding, and in 14 (50%) the HHT: Distribution of telangiectasias (64 Patients) bleeding site was indeterminate. Eighteen of the 28 patients were followed for 2-6 years, and of these two- n % thirds had continued chronic intermittent bleeding, Skin while one-third had steady progression in the degree of Hands/feet 43 67 hemorrhage. In contrast to epistaxis, none of the pa- Face 35 55 tients with GI hemorrhage underwent spontaneous Chest 25 39 Mucosa regression. Nose 50 78 Esophagogastroduodenoscopy was performed on 17 Lips 45 70 patients and 12 (70%) had typical lesions in the stom- Tongue 40 62 Cheek 34 53 ach, although none was actively bleeding at the time of Palate 21 32 the examination (Table 5). No esophageal or duodenal Conjunctiva 6 9 lesions were described. Nine percent of all patients and 14% of those with GI hemorrhage had coexisting duo- TABLE 3 denal ulcer disease. Sigmoidoseopy demonstrated telan- HHT: Epistaxis giectasias in only four of the 23 patients studied and barium x-rays were uniformly nonrevealing. Angiogra- n % phy demonstrated multiple visceral telangiectasias in Incidence 50 78 two patients where prior evaluation including upper Minor (no transfusion) 27 42 endoscopy was unrewarding. Colonoscopy was per- Major (transfusion) 23 36 formed in one patient and showed an actively bleeding May 1984 HEREDITARY HEMORRHAGIC TELANGIECTASIA 365 TABLE 4 TABLE 6 HHT: Gl Hemorrhage HHT: CNS Manifestations Incidence 28 44 Overall incidence Minor (no transfusion) 12 19 Transient ischemic attack Major (transfusion) 16 25 Brain abscess Arteriovenous malformation Cerebrovascular accident • II s — * Included under brain abscess, Patient hepatic congestion and 30% had hepatic telangiectasias. f o I r Iron overload (3+ or more) was seen in 50%. Periportal e . fibrosis (eight patients), occasional serate hepatocellular o r necrosis (three patients), or lobular fat deposition with- Numb > • rnnn n " 1 2 3 4 5 6 7 n8 out a significant history of alcohol intake (two patients) Decade of Life were in 40% of patients. There was no patient with FIG, 2, Gl hemorrhage: age at onset. fully developed cirrhosis, bridging necrosis, or chronic active hepatitis. Combinations of these findings were TABLE 5 found in half of the patients studied. HHT: Gl Hemorrhage (Diagnostic Methods) Miscellaneous disease Done Positive Twenty percent had clinical evidence of right, left, or Esophagogastroduodenoscopy 17 12 biventricular cardiac failure without any explanation Sigmoidoscopy 22 4 other than HHT. The patients with pulmonary AVFs Colonoscopy 1 1
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