The Iron Disorders Institute Guide to Hemochromatosis. (Book Reviews).

The Iron Disorders Institute Guide to Hemochromatosis 

Editor: Cheryl D. Garrison

Publisher: Cumberland House, 2001

The discovery of the gene responsible for most cases of hereditary hemochromatosis (HC) in 1996 has triggered an explosion of knowledge about this disease and iron metabolism. HC is one of the most common autosomal recessive disorders: about 10% of the population in Europe are heterozygous carriers, and 0.3% are homozygotes. The expression of the disease, however; is modified by several risk factors, including dietary iron intake and blood loss, as in menstruation and voluntary blood donation. The disease is more common in men than in women, is rare before the age of 20 years, and usually manifests itself between the ages of 40 and 60 years.

Hemochromatosis should be detected and treated as early as possible because untreated or treated late, it has a very poor prognosis, whereas if diagnosed and treated early, the prognosis is quite good. HC meets the World Health Organization recommendations for a screening program: it is common, has a long pre-symptomatic phase, is associated with high mortality and morbidity rates when untreated, and treatment greatly improves the prognosis. The initial symptoms are nonspecific and include weakness, lassitude, weight loss, skin pigmentation, loss of libido, abdominal pain, and symptoms of diabetes mellitus. As the disease progresses, hepatomegaly and liver cirrhosis develop. This is an ominous sign because about 30% of those with liver cirrhosis develop hepatocellular carcinoma; hepatocellular carcinoma, on the other hand, rarely develops in the pre-cirrhotic stage. Other common manifestations include diabetes mellitus, arthropathy, cardiomyopathy, and hypogonadism.

There is a need for patients with HC and especially for their families to understand the nature of the disease, its implications, and what they can do to maximize its management. They also need to appreciate the importance of being screened for the disease. Unfortunately there is a relative paucity of information and especially books on this disease.

The Iron Disorders Institute Guide to Hemochromatosis edited by Cheryl D. Garrison provides the answer to that need. The 359-page book is well organized, well written and easy to read. There are 31 chapters grouped into seven sections, each discussing a particular aspect such as symptoms of iron overload, how to detect and diagnose the disease, what the patient can do to help in the management of the disease, and the support available to patients and their families in the US and worldwide. The text is interspersed with case histories to further illustrate and emphasize the points made in the text. In addition, there is a glossary of technical terms, a section on frequently asked questions, a list of useful contacts, and a bibliography. The book is essentially written for nonmedical readers. As such, it will be a useful resource to recommend to patients with HC and their families.