Archives: Conditions A-Z

Hereditary hemorrhagic telangiectasia

Vascular dysplasia with mucocutaneous telangiectases and arteriovenous malformations.

Idiopathic pulmonary fibrosis

A progressive fibrotic lung disease; antifibrotic therapy slows decline in lung function.

Hypertrophic cardiomyopathy

The most common inherited cardiac disorder; management spans beta-blockade, cardiac myosin inhibition and ICDs for high-risk patients.

Ichthyosis

Heritable disorders of cornification with persistent scaling skin.

Hypophosphatasia

An inborn error of bone mineralisation; enzyme replacement is available for paediatric-onset disease.

IgG4-related disease

Fibroinflammatory disease with tumefactive lesions, IgG4-positive plasma cells and elevated serum IgG4.

IgA nephropathy

Glomerular disease from IgA immune-complex deposition; variable progression to renal failure.

Immune thrombocytopenia

Autoimmune platelet destruction causing isolated thrombocytopenia and bleeding.

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