Hereditary Haemorrhagic Telangiectasia

History Taking

Chief Complaint:

• Recurrent nosebleeds (epistaxis)

• Blood in the stool (melena or hematochezia)

• Shortness of breath (dyspnea)

History of Presenting Complaint:

• Duration and frequency of nosebleeds

• Any signs of anemia such as fatigue, paleness, and weakness

• Presence and severity of dyspnea, whether it's worse with exercise

• Any episodes of coughing up blood (hemoptysis)

• Any blood in urine (hematuria)

System Review:

• GI system: History of gastrointestinal bleeding, dark tarry stools, or red blood in stools

• Respiratory system: History of shortness of breath, reduced exercise tolerance

• Neurological system: Any symptoms suggestive of a brain abscess or stroke-like symptoms (e.g., headache, confusion, paralysis, difficulty speaking)

• Skin: Presence of small red-to-violet telangiectasia on the skin, lips, mouth, or fingers

Past Medical History:

• History of anemia or blood transfusions

• Previous diagnosis of arteriovenous malformations (AVMs) or telangiectasias in any organ system

• History of migraines or seizures

Past Surgical History:

• Any surgeries for nosebleeds or arteriovenous malformations

• Any procedures for GI bleeding

Drug History:

• Use of anticoagulants or antiplatelet drugs, which could worsen bleeding

• Iron supplements for anemia

Family History:

• Relatives diagnosed with HHT

• Family history of nosebleeds, telangiectasia, arteriovenous malformations, or unexplained bleeding

Personal History:

• Smoking and alcohol consumption, as these can exacerbate symptoms

• Occupational exposures that may affect lung function

Social History:

• Impact of the condition on daily life, including work and relationships

• Use of home oxygen if dyspnea is severe

• Support systems in place, including understanding of the disease

Physical Examination

General Examination:

• Pallor, which might suggest underlying anemia

• Clubbing, particularly if there are underlying lung arteriovenous malformations

• Cyanosis in advanced cases with significant right to left shunts due to pulmonary AVMs

Hands and Arms Examination:

• Telangiectasia may be present on the fingers or hands

Mouth Examination:

• Telangiectasia on the lips or oral mucosa

Face

• Eyes: Pallor

• Examination of the nose may reveal telangiectasia and signs of recent or old bleeding

Neck Examination:

• JVP may be raised if there is right heart failure secondary to pulmonary arteriovenous malformations

Cardiac Examination:

• Evidence of right heart strain such as a loud pulmonary component of the second heart sound, tricuspid regurgitation murmur or signs of right heart failure (elevated jugular venous pressure, peripheral edema) in the presence of significant pulmonary arteriovenous malformations

Respiratory Examination:

• Decreased breath sounds or crackles if there are pulmonary arteriovenous malformations or complications such as hemothorax or hemoptysis

Abdominal Examination:

• Hepatomegaly may be present due to hepatic arteriovenous malformations

Neurological Examination:

• Neurological deficits could be present if the patient has suffered from a paradoxical embolic stroke or cerebral abscess due to pulmonary arteriovenous malformations.

Investigations

Laboratory Investigations:

• Complete Blood Count (CBC): to assess for anemia secondary to recurrent bleeding

• Iron Studies: to evaluate for iron deficiency anemia due to recurrent bleeding

• Liver function tests: to check for liver involvement in HHT

• Coagulation profile: to exclude coagulopathies that might be contributing to bleeding

Imaging Studies:

• Chest X-ray: to assess for pulmonary arteriovenous malformations (AVMs) or complications such as hemothorax

• Contrast Echocardiography or CT scan of the chest: to confirm pulmonary AVMs, especially if the chest X-ray is inconclusive

• CT scan or MRI of the brain: in case of neurological symptoms, to rule out cerebral AVMs or abscesses

• Abdominal imaging (Ultrasound, CT, or MRI): to evaluate for hepatic AVMs

Invasive Tests:

• Endoscopy (gastroscopy or colonoscopy): in cases of gastrointestinal bleeding, to identify and possibly treat gastrointestinal telangiectasia

• Pulmonary Angiogram: for definitive diagnosis and potentially treatment of pulmonary AVMs

• Genetic testing: to confirm the diagnosis of HHT in uncertain cases or for family screening. HHT is most commonly associated with mutations in the ENG, ACVRL1, and SMAD4 genes.

Other Tests:

• Oxygen saturation: to assess for hypoxia due to pulmonary AVMs

• Pulmonary function tests: to assess lung function in case of pulmonary AVMs

Management

General Management:

• Patient education: on the nature of the disease, signs of complications to look out for, and the importance of regular follow-up

• Genetic counselling: for patients and families to discuss inheritance patterns and risks to offspring

• Iron-rich diet and oral iron supplements: to manage iron-deficiency anemia from recurrent bleeding

Medical Management:

• Antifibrinolytic agents: such as tranexamic acid to reduce the frequency and severity of bleeding

• Topical therapies: like nasal saline sprays or ointments to keep nasal passages moist and reduce nosebleeds

• Bevacizumab (Avastin): an anti-VEGF monoclonal antibody, may be used topically (nasal spray) or systemically in severe cases to reduce bleeding episodes and improve quality of life

• Antibiotic prophylaxis: before dental or surgical procedures to prevent infective endocarditis, particularly if patient has pulmonary AVMs

Surgical Management:

• Nasal coagulation or septal dermoplasty: for recurrent or severe nosebleeds

• Embolization: to treat pulmonary, hepatic, or cerebral AVMs and to prevent serious complications such as stroke or brain abscess

• Liver transplant: in severe cases of hepatic AVMs causing high-output heart failure or severe portal hypertension

Other:

• Regular screening: for AVMs in the brain, lungs, and liver to prevent complications

• Referral to specialist center: for multidisciplinary care including genetics, interventional radiology, gastroenterology, cardiology, and otolaryngology

Diagnostic criteria for HHT

• Epistaxis: spontaneous and recurrent

• Telangiectasia: multiple, at characteristic sites: lips, oral cavity,fingers and nose

• Visceral lesions such as GI telangiectasia or pulmonary, hepatic, cerebra, or spinal AVMs

• Family history: A first degree relative with HHT according to these criteria

HHT diagnosis is

• Definite: if three or more criteria are present

• Possible or suspected: If two criteria are present

• Unlikely: if fewer than two criteria are present