Hutchinson-Gilford Progeria Workup

Updated: Nov 24, 2020
  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Laboratory Studies

Abnormalities in serum lipid levels are limited to low high-density lipoprotein levels, which are associated with atherosclerotic disease. Serum low-density lipoprotein and total cholesterol levels are normal in patients with Hutchinson-Gilford progeria syndrome (HGPS).

Elevated levels of hyaluronic acid excretion are seen in the urine of patients with HGPS but are not diagnostic. The significance is unknown.


Imaging Studies

Radiography findings usually begin to manifest within the first or second year of life and most commonly involve the skull, thorax, long bones, and phalanges. [26, 31] Typical findings are as follows:

  • Generalized osteopenia

  • Acroosteolysis (distal bone resorption) of the phalanges and distal clavicles

  • Pseudoarthrosis of the distal clavicle

  • "Fish-mouth" vertebral bodies

  • Coxa valga and hip dysplasia

  • Attenuated cortical bone

  • Widened metaphyses, epiphyseal overgrowth, and narrow diaphyses

  • Avascular necrosis of the femoral head

  • Focal concave cortical defects at or near to the insertion of a major muscle group

  • Dystrophic calcification, typically distal to the tufts of the fingers

  • Normal bone age

Use of CT and MRI has identified a spectrum of craniofacial structural bone and soft tissue abnormalities. [32] Common craniofacial abnormalities seen in progeria include the following:

  • J-shaped sella

  • Increased calvarial vascular markings

  • Abnormal mandibular condyles

  • Hypoplastic articular eminences

  • Small zygomatic arches

  • Prominent parotid glands

  • Optic nerve kinking

Brain magnetic resonance angiography may identify cerebrovascular occlusive disease. Features of a distinct vasculopathy may be seen, including intracranial steno-occlusive arterial lesions, basal cistern collateral vessels, and slow compensatory collateral flow over the cerebral convexities; vertebral artery stenosis with stenosis and calcification of both the cervical internal and common carotid arteries; and high percentage of both early symptomatic and clinically silent infarcts. [33]


Other Tests

Serial ECG and echocardiography should be performed to monitor for coronary artery disease and congestive heart failure.


Histologic Findings

Skin biopsy specimens from firm, sclerotic areas reveal the characteristics of scleroderma.

In the early stages, the epidermis appears moderately acanthotic with some effacement of the rete ridges. Thickened collagen bundles may be seen in the dermis. Progressive deposition of thickened, homogenized collagen that extends into the subcutaneous tissue is observed. In the upper dermis, a mild perivascular infiltrate may be observed. The amount of acid mucopolysaccharides is increased.

At later stages, the subcutaneous fat is greatly reduced, except for some sparse fat lobules surrounded by connective tissue. Hyalinized dermal collagen is prominent. Blood vessels exhibit a moderate thickening of the muscle wall with a narrowing of the vascular lumen. Hair follicles may appear atrophic.