Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient.

Omer Ali Mohamed Ahmed Elawad,Ahmed Abdalazim Dafallah Albashir,Ahmed Ali Mohamed Ahmed Elawad,Osman Eltieb Elbasheer Mohamed,Mohammed Mahgoub Mirghani Ahmed,Ron Rabinowitz

doi:10.1155/2020/6395629

Omer Ali Mohamed Ahmed Elawad, Ahmed Abdalazim Dafallah Albashir + Show 4 more

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https://doi.org/10.1155/2020/6395629

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Abstract

Background Hereditary hemorrhagic telangiectasia (HHT) also known as Osler–Weber–Rendu syndrome is a rare autosomal dominant disorder, which results in vascular dysplasia affecting mainly visceral and mucocutaneous organs. Case Presentation. A 65-year-old woman with a 12-year history of recurrent spontaneous epistaxis presented with shortness of breath, easy fatigability, and bilateral lower limb edema. Her family history was significant for definite hereditary hemorrhagic telangiectasia in first-degree relatives. During the previous 15 days, she has experienced three episodes of recurrent nasal bleeding. She has a background of chronic mitral regurgitation. Physical examination revealed telangiectases in her tongue, lower lip, and hand in addition to signs of congestive heart failure. The patient met 3\\4 Curacao criteria and had a definite HHT. Her laboratory workup revealed a hemoglobin count of 5.4 g/dl. Echocardiography revealed a left systolic ejection fraction of 51% with left atrial dilatation and severe mitral regurgitation. Chest X-ray showed features of cardiomegaly and pulmonary edema. The abdominal ultrasonography showed enlarged liver size with homogenous texture and congested hepatic veins without features of hepatic AVMs. She was treated with intravenous frusemide, iron supplement, tranexamic acid, blood transfusion, and nasal packing. Conclusions HTT usually passes unnoticed in Sudan. The rarity of HHT, difficulties in affording diagnostic imaging studies, and low clinical suspicion among doctors are important contributing factors. Anemia resulting from recurrent epistaxis might have an influential role in precipitating acute heart failure in those with chronic rheumatic valvular disease.

Highlights

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder, which has an autosomal dominant pattern of inheritance. e estimated prevalence is 1/5000–1/8000 of population [1]. It is characterized by diffuse telangiectases, recurrent epistaxis, and widespread arteriovenous malformations (AVMs)
Recurrent and spontaneous nosebleeds, which may be mild to severe Telangiectases are small red spots that disappear when pushed on, and they are found at characteristic sites For example, gastrointestinal telangiectasia, pulmonary arteriovenous malformations (AVM), hepatic AVM, cerebral AVM, and spinal AVM at is, first-degree relative such as brother, sister, parent, or child who meets these same criteria for definite HHT or has been genetically diagnosed
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by arteriovenous malformations (AVM) of the internal organs and mucocutaneous telangiectasias. ese AVMs lack the intervening capillaries resulting in direct connections between arteries and veins. ey can involve the skin, mucous membranes, brain, lung, gastrointestinal tract, and/or liver [3]. e most common clinical features are recurrent spontaneous nosebleeds which present in 50% of patients with HHT at the age of ten, with incidence increasing with age

Summary

Background

Hereditary hemorrhagic telangiectasia (HHT) known as Osler–Weber–Rendu syndrome is a rare autosomal dominant disorder, which results in vascular dysplasia affecting mainly visceral and mucocutaneous organs. A 65-year-old woman with a 12-year history of recurrent spontaneous epistaxis presented with shortness of breath, easy fatigability, and bilateral lower limb edema. Her family history was significant for definite hereditary hemorrhagic telangiectasia in first-degree relatives. During the previous 15 days, she has experienced three episodes of recurrent nasal bleeding She has a background of chronic mitral regurgitation. E patient met 3\4 Curacao criteria and had a definite HHT Her laboratory workup revealed a hemoglobin count of 5.4 g/dl. E abdominal ultrasonography showed enlarged liver size with homogenous texture and congested hepatic veins without features of hepatic AVMs. Chest X-ray showed features of cardiomegaly and pulmonary edema. Anemia resulting from recurrent epistaxis might have an influential role in precipitating acute heart failure in those with chronic rheumatic valvular disease

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