Metabolic and Autoimmune Syndromes

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Key points

  • Genetic alterations can cause physiologic responses resulting in systemic and metabolic complications.

  • These complications can cause significant deficits, as in Hurler and Williams syndromes, which can lead to debilitating disease and early death.

  • These alterations may also lead to abnormal immune responses that affect significant organs and organ systems.

Fabry disease

Key points

  • Fabry disease, also known as Anderson-Fabry disease, is an inherited X-linked recessive disorder of lysosomal storage.1, 2, 3

  • Fabry disease is the second most prevalent lipid storage disease after Gaucher disease and occurs from a deficient activity of lysosome hydrolase, alpha-galactosidase A.1, 2, 3, 4

Williams syndrome

Key points

  • Williams syndrome, also known as Williams-Beuren syndrome, is a rare autosomal dominant neurodevelopmental disorder affecting men and women equally.1, 2, 3

  • Williams syndrome was first discovered in 1961 by J.C.P. Williams, who found patients with supravalvar aortic stenosis, facial anomalies, and mental retardation.4

  • Independently in 1962, A.J. Beuren found similar phenomena in his patients but also certain dental characteristics and pulmonary artery stenosis.5

Hurler syndrome

Key points

  • Hurler syndrome is a rare autosomal recessive disease that is classified in a group of disorders called mucopolysaccharidosis. It is also known as mucopolysaccharidosis type 1-H.

  • First described by Dr Gertrud Hurler in 1919, Hurler syndrome was discovered in 2 unrelated boys with similar characteristics including mental impairment, distortion of facial features, respiratory and cardiac disease, hepatosplenomegaly, and corneal opacities.1, 2, 3, 4

  • It is the most severe form of

Hunter syndrome

Key points

  • Hunter syndrome, also known as mucopolysaccharidosis II, is a rare X-linked lysosomal storage disorder.1, 2, 3, 4, 5, 6, 7

  • Hunter syndrome was first described by Dr Charles Hunter8 in 1917, who described 2 brothers with significant skeletal deformities, including facial deformities with hearing deficiencies.

  • The syndrome causes a deficiency in the lysosomal enzyme iduronate-2-sulphatase, which is responsible for cleaving sulfate from the glycol aminoglycosides dermatan sulfate and

Heerfordt syndrome

Key points

  • Heerfordt syndrome is a rare manifestation of systemic sarcoidosis that includes fever, parotid swelling, uveitis, and facial nerve paralysis.1, 2, 3, 4, 5

  • It was described by Danish ophthalmologist Christian Heerfordt, who reported these traits without the connection to sarcoidosis.6 That direct link was reported in 1937 by Dr Jan Waldenstrom.7

  • The histology is classic for multiple noncaseating granulomas found in the parotid or salivary glands and lacrimal glands.1

  • Treatment of

Sjögren syndrome

Key points

  • Sjögren syndrome is a chronic autoimmune inflammatory disease that primarily affects the exocrine glands.1, 2 It was first described by Swedish ophthalmologist Henrik Sjögren in 1933.3, 4

  • The syndrome can manifest as a primary disorder usually within the lacrimal and salivary glands or have systemic manifestations (most commonly rheumatoid arthritis or systemic lupus erythematosus), and is defined therefore as secondary Sjögren.2, 5

  • Although the exact cause is unknown, it seems that

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    The author has nothing to disclose.

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