Progeria overview

Jump to: navigation, search

Progeria Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Progeria from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Progeria overview On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Progeria overview

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Progeria overview

CDC on Progeria overview

Progeria overview in the news

Blogs on Progeria overview

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Progeria overview

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.

References


Linked-in.jpg