Dyspnea with anemia turned out to be a case of hereditary hemorrhagic telangiectasia
A 40-year-old male was admitted with complain of progressive fatigue and shortness of breath for the last 2 years. On enquiry, he gave history of recurrent epistaxis from childhood which increased in frequency and severity for the last 2 years with absence of hemoptysis. He had history of blood transfusions on two occasions during the last 2 years. He had recent onset of blurring of vision without any double vision in his left eye for 2 months. On physical examination, moderate pallor along with clubbing was found. Complete hemogram revealed hemoglobin (Hb%)–4.3 g/dl (normal value 14–18 g/dl), total leukocyte count–7400/μl (normal value 4000–11000/μl), mean corpuscular volume (MCV)–80 fl (normal value 83-97 fl), mean corpuscular hemoglobin concentration (MCHC)–26 g/dl (normal value 32–36 g/dl), erythrocyte sedimentation rate (ESR)–25 mm/h in the first hour (normal value 0–15 mm in the first hour), and platelet count–480,000/μl (normal value 150,000-450,000/μl).Peripheral blood smear examination showed microcytic and hypochromic red blood cells. Other laboratory investigations were serum ferritin 10 μg/l (normal value 50–200 μg/l), serum iron 23 μg/dl (50–150 μg/dl), transferrin saturation 8% (normal value 30–50%), and total iron binding capacity (TIBC) 440 μg/dl (normal value 300–360 μg/dl). Serum electrophoresis revealed normal hemoglobin pattern. Hematological workup and iron profile findings were suggestive of iron deficiency anemia. Tests for the coagulation profile revealed clotting time (CT)–100 seconds (normal value 90–130 seconds), bleeding time (BT)–5 minutes (3–7 minutes), prothrombin time (PT)–12 seconds (normal value 10–14 seconds), and activated partial thromboplastine time (APTT)–28 seconds (normal value 21–35 seconds). Chest x-ray of the patient revealed a peripheral based mass in the right lower zone. CT scan thorax with contrast showed a peripherally based lung mass with suspected abnormal vascular communications radiating toward hilum. CT angiography of thorax confirmed the diagnosis of pulmonary AVM by the presence of two AVM with anterior one being larger and posterior one being smaller []. Echocardiography with saline contrast media revealed micro bubbles in left atrium within four cardiac cycles of their appearance in right atrium, indicative of intrapulmonary shunting and absence of intracardiac shunting. On dermatological examination, numerous telangiectatic vessels were noted in lips, under the surface of tongue, ear lobules, nail beds, and palm []. Nasal endoscopic examination revealed multiple bleeding spots along with presence of numerous telangiectatic vessels in both septum and turbinate []. Stool was tested positive for occult blood. On upper gastrointestinal (GI) endoscopy there was presence of telengiectatic vessels in various parts of GI mucosa with absence of varices (stomach, first part of duodenum) although not as numerous as that of nasal mucosa. Fiber optic-bronchoscopic examination revealed numerous telangiectatic vessels in both wall of trachea and bronchus. Ophthalmological examination also showed numerous telengiectatic vessels in conjunctival mucosa and presence of hemorrhage in macula of left eye possibly resulting from rupture of telengiectatic vessels in retina. On the other hand, no abnormality was detected in CT and MRI of brain. A liver function test revealed total bilirubin 0.8 mg/dl (normal value 0.2–1.4 mg/ dl), AST 15 U/l (normal value 7–21 U/l), ALT 20 U/l (normal value 5–40 U/l), alkaline phosphatase 42 U/l (normal value 32–110 U/l), and albumin 4.5 g/ dl (normal value 3.5–5 g/dl). Ultrasonography and CT scan with contrast of abdomen did not reveal any vascular abnormality. At this point, our differential diagnosis was hereditary hemorrhagic telangiectasia, capillary malformation-AVM syndrome, CREST syndrome, etc. Screening of family members was done in the form of complete history, physical examination (nasal and oral mucosa examination), chest radiography, and arterial blood gas testing (with measurement of the shunt fraction). On family history, epistaxis was present in first-degree relatives like mother and one brother []. Nasal endoscopic examination was done in his mother and his brothers and it revealed telengiectatic vessels in nasal septum and turbinate of mother and one brother. So, a diagnosis of hereditary hemorrhagic telengiectasia was made. Two units of blood transfusion were done to correct his anemia and favorable response regarding his dyspnea was observed immediately. Laser therapy was performed for the telangictatic vessels of his skin, nasal mucosa and gastrointestinal tract. Pulmonary AVM was treated by surgery as the feeding artery was less than 3 mm. The patient was discharged and asked for annual visit with complete blood count and tests for occult blood in stool.