Progeria overview
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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).
Natural History, Complications, and Prognosis
The symptoms of Hutchinson-Gilford progeria syndrome (HGPS) usually develop in the first decade of life, complications of Hutchinson-Gilford progeria syndrome (HGPS) include progressive atherosclerosis and myocardial infarction. Prognosis is generally poor, in patients with Hutchinson-Gilford progeria syndrome (HGPS).
Diagnosis
Diagnostic Study of Choice
There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS).
History and Symptoms
The majority of patients with Hutchinson-Gilford progeria syndrome (HGPS) are growth issues, cardiac issues, ophthalmologic problems, hearing problems, failure to thrive, poor weight gain and prominent scalp veins.
Physical Examination
Common physical examination findings of Hutchinson-Gilford progeria syndrome (HGPS) include skin changes, hair changes, eye problems and musculoskeletal abnormalities.
Laboratory Findings
Some patients with Hutchinson-Gilford progeria syndrome (HGPS) may have elevated platelet counts, serum phosphorus levels and decreased leptin levels and bone density.
Electrocardiogram
There are no ECG findings associated with Hutchinson-Gilford progeria syndrome (HGPS).
X-ray
An x-ray may be helpful in the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) and findings are acroosteolysis and clavicular resorption.
Echocardiography and Ultrasound
There are no echocardiography/ultrasound findings associated with Hutchinson-Gilford progeria syndrome (HGPS).
CT scan
CT scan findings associated with Hutchinson-Gilford progeria syndrome (HGPS) include calcification and stenosis of internal carotid artery.
MRI
Head MRI may be helpful in the diagnosis of craniofacial abnormalities in patients with Hutchinson-Gilford Progeria syndrome(HGPS).
Other Imaging Findings
There are no other imaging findings associated with Hutchinson-Gilford progeria syndrome (HGPS).
Other Diagnostic Studies
There are no other diagnostic studies associated with Hutchinson-Gilford progeria syndrome (HGPS).
Treatment
Medical Therapy
There is no treatment for Hutchinson-Gilford progeria syndrome (HGPS); the mainstay of therapy is supportive care. But the good news is that there are new investigational therapies for Hutchinson-Gilford progeria syndrome (HGPS) patients which include lonafarnib and everolimus.
Surgery
Surgery is not the first-line treatment option for patients with Hutchinson-Gilford progeria syndrome (HGPS). Surgery is usually reserved for patients with hip dislocation.
Primary Prevention
There are no established measures for the primary prevention of Hutchinson-Gilford progeria syndrome (HGPS).
Secondary Prevention
Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome (HGPS) include nutritional assessment, assessment of the cardiac and neurologicstatus of the patient, musculoskeletal issues assessment, dental evaluation, ophthalmology evaluation, and audiology evaluation.