Lysozyme amyloid related amyloidosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Homa Najafi, M.D.[2]

Synonyms and Keywords: Lysozyme amyloidosis, ALys, Hereditory amyloidosis, autosomal dominant amyloidosis, Hereditary lysozyme amyloidosis, Familial amyloid nephropathy due to lysozyme variant, Familial renal amyloidosis due to lysozyme variant, Hereditary amyloid nephropathy due to lysozyme variant, Hereditary renal amyloidosis due to lysozyme variant

Overview

Lysozyme amyloid related amyloidosis is one of the subtypes of familial amyloidosis, it is associated with four mutations include, Ile56Thr, Asp67His, Trp64Arg, and Phe57Ile. It is an extremely rare disease and it commonly affects individuals in their third to fourth decades of life. Manifestation of the disease are based on which organs are involved, and include GI symptoms, renal impairment, sicca syndrome, lymphadenopathy, splenomegaly, and petechiae or purpura. The diagnosis of lysozyme amyloid related amyloidosis is based on the family history, histologic examination and amino acid sequencing. There is no treatment for lysozyme amyloid related amyloidosis; the mainstay of therapy is supportive care. Organ transplant could be done as palliative treatment.

Historical Perspective

Classification

Lysozyme amyloid related amyloidosis is one of the subtypes of familial amyloidosis. Familiar amyloidosis may be classified according to the type of mutant protein into 6 subtypes:[5][6][7]

 
 
 
 
 
 
 
 
 
 
 
 
 
Familial amyloidosis subtypes
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Transthyretin (TTR)
 
Apolipoprotein AI
 
Gelsolin
 
Lysozyme
 
Cystatin C
 
Fibrinogen Aa-chain
 
Apolipoprotein AII

Pathophysiology

Genetics

There are four genetic mutations which are associated with lysozyme amyloid related amyloidosis. include:[4]

  • Ile56Thr
  • Asp67His
  • Trp64Arg
  • Phe57Ile

Causes

Common cause of lysozyme amyloid related amyloidosis is genetic mutations.[13][5][6][14]

Differentiating lysozyme amyloid related amyloidosis from Other Diseases

Lysozyme amyloid related amyloidosis must be differentiated from other types of familial amyloidosis and other diseases that mimic amyloidosis and may present as organ dysfunction, specifically, nephrotic syndrome leading to renal failure, cardiac failure and polyneuropathy.

For more information on the differential diagnosis of lysozyme amyloid related amyloidosis click here

Epidemiology and Demographics

  • Lysozyme amyloid related amyloidosis commonly affects individuals in their third to fourth decades of life.[5]

Risk Factors

The most potent risk factor in the development of lysozyme amyloid related amyloidosis is positive familial history. Other risk factors include older age, male gender, and African-American race.[17][3][18]

Screening

There is insufficient evidence to recommend routine screening for lysozyme amyloid related amyloidosis.

Natural History, Complications, and Prognosis

Note: Because the risk of bleeding in this patients, liver biopsy should not be performed in suspected ones.[20]

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Physical examination of patients with lysozyme amyloid related amyloidosis is usually remarkable for renal impairment, petechiae, purpura, lymphadenopathy, and splenomegaly.[26][24][4][25][27][28]

Laboratory Findings

  • Common tests that are abnormal in renal function tests including serum creatinine, urinary protein, glomerular filtration rate, and albumin to creatinine ratio in the urine.

Electrocardiogram

Although, cardiac involvement is so rare in lysozyme amyloid related amyloidosis, electrocardiography may be done for cardiac analysis..

X-ray

There are no x-ray findings associated with lysozyme amyloid related amyloidosis.

Echocardiography or Ultrasound

Although, cardiac involvement is so rare in lysozyme amyloid related amyloidosis, echocardiography may be done for cardiac analysis.

CT scan

There are no CT scan findings associated with lysozyme amyloid related amyloidosis.

MRI

There are no MRI findings associated with lysozyme amyloid related amyloidosis.

Other Imaging Findings

Total body SAP component scintigraphy may be helpful in the diagnosis of lysozyme amyloid related amyloidosis. It can show lysozyme amyloid deposition and extension of it in the liver, spleen, kidney, adrenal glands, and bone marrow.[19]

Other Diagnostic Studies

Treatment

Medical Therapy

There is no treatment for lysozyme amyloid related amyloidosis; the mainstay of therapy is supportive care.[32]

Surgery

Primary Prevention

There are no established measures for the primary prevention of lysozyme amyloid related amyloidosis.

Secondary Prevention

Effective measures for the secondary prevention of lysozyme amyloid related amyloidosis include:[19]

References

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  2. 2.0 2.1 Sipe JD, Cohen AS (June 2000). "Review: history of the amyloid fibril". J. Struct. Biol. 130 (2–3): 88–98. doi:10.1006/jsbi.2000.4221. PMID 10940217.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
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  13. Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ (April 1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–7. doi:10.1038/362553a0. PMID 8464497.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  14. Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
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