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Wolman disease

Wolman disease (also known as Wolman’s disease, Wolman’s syndrom, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal by age 1. This autosomal recessive disorder is marked by accumulation of cholesteryl esters (normally a transport form of cholesterol) and triglycerides (a chemical form in which fats exist in the body) that can build up significantly and cause damage in the cells and tissues. Both males and females are affected by this severe disorder. more...

Waardenburg syndrome
Wagner's disease
WAGR syndrome
Wallerian degeneration
Warkany syndrome
Watermelon stomach
Wegener's granulomatosis
Weissenbacher Zweymuller...
Werdnig-Hoffmann disease
Werner's syndrome
Whipple disease
Whooping cough
Willebrand disease
Willebrand disease, acquired
Williams syndrome
Wilms tumor-aniridia...
Wilms' tumor
Wilson's disease
Wiskott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
Wolman disease
Wooly hair syndrome
Worster-Drought syndrome
Writer's cramp

Infants are normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly (enlarged liver and grossly enlarged spleen), distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting and calcium deposits in the adrenal glands, causing them to harden.

There is no specific treatment for Wolman disease. Patients with anemia may require blood transfusions. In some patients, the enlarged spleen must be removed to improve cardiopulmonary function. Restricting one’s diet does not prevent lipid buildup in cells and tissues.

Wolman disease is named after Moshe Wolman.


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Choosing a reference laboratory?
From Medical Laboratory Observer, 8/1/04 by Ronald A. Blum

The selection of a reference laboratory is a critical step in establishing integrated laboratory services to meet the needs of a wide variety of hospital-and clinic-based physicians. Today, the role of the reference laboratory is under increasing scrutiny as primary labs look for a value-added partner in providing the service, support, and information essential for efficient and cost-effective operation within the healthcare community.

Primary lab self-evaluation

A free-standing lab, a hospital lab, or a centralized laboratory for a multifacility network may each view the role of the reference lab differently, and the selection process for a reference lab may vary from a simple phone call to a lengthy, formalized request for proposal process. To select the proper reference lab, however, the primary lab first must understand and prioritize its own strengths and needs. Patient populations, test mix, and resource allocations should all be determined prior to the reference lab selection process. Ultimately, the optimum choice of reference lab is the one that best meets the current needs and supports the long-term goals of the primary lab over time.

Evaluating reference laboratories

The sine qua non for selecting any reference laboratory is the quality of test performance. The NCCLS guideline for selecting and evaluating a referral laboratory service outlines several steps to be taken in this regard. (1) The quality of reference laboratory services is also a broad topic that could potentially include everything from the courier's attitude to telephone response time. (2) Outlined here are some of the more important and commonly evaluated criteria used in selecting a reference laboratory. Most of this information can be obtained from reference lab directories, websites, and sales representatives. A sample decision table is included at the end of this article (see page 33) to help guide an evaluation of how well each reference laboratory meets a facility's individual needs.

Test offering

Comprehensive test menu. A reference lab with a comprehensive test menu allows the primary lab to implement "one-stop shopping" for send-outs--making it much easier and faster to identify specimen requirements and track pending tests. Some labs may offer testing in a variety of areas, but lack the depth of testing needed to serve the specialist physician adequately. Optimally, the reference lab will offer a mix of routine and esoteric tests to supplement the primary lab's service without competing in the primary lab's market arena.

High complexity testing/advanced technologies. Molecular diagnostics is playing an increasingly significant role in the evaluation of patients. (3) Does the reference lab offer molecular-based testing? Does it have the expertise to properly perform and interpret the results? Are both qualitative and quantitative tests available for addressing specific clinical situations?

Special patient populations. Some facilities have specialized testing needs that must be addressed by the reference lab partner. Children's hospitals want to have tests performed on minimum volumes of easily obtained samples and need age-specific reference ranges. A facility with a transplant program needs fast, highly sensitive testing for viral agents that represent a threat to patients post-transplant.

Service and delivery

Courier services. Well-trained, reliable couriers are critical in making sure that specimens arrive correctly packaged, at the appropriate temperature, and on time.

Turnaround time (TAT). The send-out process can lead to unacceptable TATs for tests with time-critical import. The reference lab should provide data on its ability to meet or exceed its published TATs. Many reference labs provide automated support for accessioning and specimen processing to improve TATs.

QNS/Tests not performed. Similarly, the reference lab should be able to provide data on tests not performed due to issues with sample type, quantity, or stability.


Information. Does the reference lab provide test-related information, which is useful in helping to select the proper tests as well as interpret results? Is information readily available in hard copy, CD-ROM, or via website? How easy is it to access this information? Is it kept up to date? Is it easy to understand? Does the reference lab notify its clients when new information is made available? If a question or an issue arises, can it be resolved efficiently with a phone call to knowledgeable client-service representatives?

Clinical and technical consultation. Physicians may be unfamiliar with the specific attributes of some high-complexity testing and need a technical assessment of what tests will best resolve their clinical questions. They may also seek guidance in interpreting a complex result or series of test results. Does the reference lab have experts available 24/7 to answer these questions?

Continuing education. Reference labs can frequently help provide CME/CEU presentations.

Connectivity options

LIS interface. Electronic test-ordering and -result reporting can reduce transcription errors and improve TAT. Ease of use, time/labor involved in system installation, compatibility with the facility's laboratory information system (L.I.S.), and ongoing product support are all key factors to be explored when choosing a reference lab.

Other factors

Third-party billing. A reference lab that can perform third-party billing can be extremely helpful and cost effective and may be able to provide more timely automated submissions that meet today's increasing regulatory requirements.

Transition support. A reference lab that makes the process of changing laboratories as easy and seamless as possible can reduce errors and support staff introduction to new systems. Does the reference lab have a transition plan and a transition support team? Will it train the primary lab's personnel on any new procedures, support customization of information technology (IT) products, and establish dedicated channels for two-way communication during the transition?

Outreach development. Primary labs looking to expand their business may want to consider a reference lab that will partner with them to help grow their outreach program and secure new business. Lack of IT solutions and pressure to reduce costs are among the leading weaknesses for most outreach programs, making them key factors to consider when selecting a reference laboratory partner.

Joint marketing. Working together, the primary lab and reference lab can develop materials and services to promote specific tests or disease-state offerings to targeted physician groups.

After a primary lab has determined its specific needs and narrowed the field of potential reference laboratory partners through this selection process, it will probably need to do a more intensive evaluation of candidate reference labs by obtaining references from their clients who have needs similar to its own, arrange a site visit to the reference lab, and send test samples to the labs to compare levels of service actually provided.


1. National Committee for Clinical Laboratory Standards (NCCLS). Selecting and evaluating a referral laboratory service. Approved guideline. NCCLS Document GP9-A. Wayne, PA: NCCLS; November 1998.

2. Dale JC, Novis DA, Meier FA. Reference laboratory telephone service quality. Arch Pathol Lab Med. 2001;125:608-612.

3. Wolman DM, Kalfoglou A, Leroy L, eds. Technology trends in the clinical laboratory industry. In: Wolman DM, Kalfoglou A, Leroy L, et al, for the Committee on Medicare Payment Methodology for Clinical Laboratory Services. Medicare Laboratory Payment Policy: Now and in the Future. Washington, DC: National Academy Press; 2000:58-74.

By Ronald A. Blum, PhD, Linda Dearing, MS, and Ian Cameron, BS

Ronald A. Blum, PhD, Linda Dearing, MS, and Ian Cameron, BS, are, respectively, director of medical communications, manager of marketing communications, and medical communications manager with Specialty Laboratories in Santa Monica, CA.

COPYRIGHT 2004 Nelson Publishing
COPYRIGHT 2004 Gale Group

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