Table Of Contents

Fibromuscular Dysplasia (FMD)

Description

• Fibromuscular Dysplasia (FMD) is a non-inflammatory, non-atherosclerotic condition primarily affecting young to middle-aged women.
• Characterized by proliferation of connective tissue and muscle fibers within arterial walls, leading to stenosis and ischemia of the affected organs.

Epidemiology

• Sex → More common in females (♀ > ♂, 8:1).

Disease Localization

• Renal arteries (75–80% of cases, often bilateral).
• Carotid and vertebral arteries (may cause TIA, stroke).

String of beads sign in fibromuscular dysplasia - Angiography

Clinical Features

• Renal FMD
  • Symptoms ⇒ Secondary hypertension, abdominal/flank pain, chronic kidney disease.
  • Findings ⇒ Abdominal bruit, costovertebral angle bruits.
• Cerebrovascular FMD
  • Symptoms ⇒ Headache, neck pain, pulsatile tinnitus, TIA, stroke, Horner's syndrome, amaurosis fugax.
  • Findings ⇒ Cervical (carotid) bruit.

Diagnosis

• Best initial tests ⇒ Duplex ultrasonography or CT angiography.
• Gold standard ⇒ Digital subtraction angiography.
• Key finding ⇒ “String of beads” sign on angiography.

Treatment

• Renal FMD
  • Antihypertensive therapy
    • ACE inhibitors, ARBs
  • Definitive treatment → Balloon angioplasty (without stenting).
• Cerebrovascular FMD
  • Stroke prophylaxis → Antiplatelet drugs (e.g., low-dose aspirin).

Hereditary Hemorrhagic Telangiectasia (HHT)

Definition

• A hereditary, systemic vasculopathy characterized by telangiectasia on the skin and mucosa, particularly in the area of the face (nose, lips, tongue)
• Pattern of inheritance → autosomal dominant

Clinical features

• Recurrent epistaxis
• Telangiectasia
• Cyanosis

Diagnosis

• Diagnostic criteria for HHT (Curaçao criteria)
  • Epistaxis
  • Telangiectasias involving the skin and mucous membranes
  • Family history of HHT
  • Signs of visceral involvement (e.g., pulmonary, gastrointestinal, cerebral arteriovenous malformations or telangiectases)
• Genetic testing

Telangiectasia 💎 Small dilated blood vessels with a threadlike appearance are visible.

Management

• Manage complications

Complications

• CNS
  • Brain abscess → paradoxical bacterial embolization across pulmonary AVM
  • Hernorrhagic CVA
• Cardio - Pulmonary
  • High-output cardiac failure
  • Pulmonary → hernoptysis
  • Pulmonary arterial hypertension.→ right-sided heart failure