Progeria overview: Difference between revisions
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==Screening== | ==Screening== | ||
There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]). | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
Revision as of 16:26, 9 August 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Historical Perspective
Hutchinson-Gilford progeria syndrome or progeria was first discovered by DeBusk and the name was given by Hastings Gilford. Dyck et al reported a patient who had progeria and underwent coronary artery bypass surgery and percutaneous transluminal angioplasty.De Paula Rodrigues et al described the involvement of bones and joints in progeria patients. The word progeria is of greek origin which means prematurely old.
Classification
Progeria may be classified according to genotype into two groups: Classic progeria and atypical progeria.
Pathophysiology
It is thought that Hutchinson-Gilford progeria is due to mutation in LMNA gene.
Causes
The most common cause of Hutchinson-Gilford progeria syndrome (HGPS) is mutation in LMNA gene.
Differentiating progeria from Other Diseases
Hutchinson-Gilford progeria syndrome (HGPS) must be differentiated from other diseases such as Atypical progeria syndromes, Restrictive dermopathy, Familial partial lipodystrophy (FPLD), Wiedemann-Rautenstrauch syndrome, Congenital generalized lipodystrophy, Cockayne syndrome, Mandibuloacral dysplasia and Petty-Laxova-Wiedemann progeroid syndrome.
Epidemiology and Demographics
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease. The incidence of Hutchinson-Gilford progeria syndrome (HGPS) is very rare. The usual age of diagnosis for Hutchinson-Gilford progeria syndrome(HGPS) ia around two to three years of age. Approximately 100 cases of Hutchinson-Gilford progeria syndrome (HGPS) have been reported in the literature till now worldwide.
Risk Factors
The most potent risk factor in the development of Hutchinson-Gilford progeria syndrome is mutation in LMNA gene.
Screening
There is insufficient evidence to recommend routine screening for Hutchinson-Gilford progeria syndrome (HGPS).