Haemochromatosis
Diseases

Author: Gianpiero Pescarmona
Date: 02/11/2007

Description

DEFINITION

Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper iron metabolism, which causes the accumulation of iron in a number of body tissues

The disease definition according to the specific consensus conference or to The Diseases Database based on the Unified Medical Language System (NLM) and a link to: a) Wikipedia definition b) The Diseases Database
Also the Mesh corresponding term has to be chosen

EPIDEMIOLOGY

age, sex, seasonality, etc

SYMPTOMS

Some people with hereditary hemochromatosis never have symptoms. Others experience a wide range of problems. These can vary considerably from person to person and may be different for men and women.

When signs and symptoms typically appear
Although the genetic defect that causes hereditary hemochromatosis is present at birth, most people don't experience signs and symptoms until later in life — usually between the ages of 30 and 50 in men and after age 50 in women. Women are more likely to have symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.

Early-stage signs and symptoms
Early signs and symptoms of hereditary hemochromatosis mimic those of many other common conditions, making it difficult to diagnose. Signs and symptoms include:

  • Arthritis, especially in your hands
  • Chronic fatigue
  • Loss of sex drive (libido) or impotence
  • Lack of normal menstruation (amenorrhea)
  • Abdominal pain
  • High blood sugar levels
  • Low thyroid function (hypothyroidism)
  • Abnormal liver function tests, even if no other symptoms are present

Advanced-stage signs and symptoms
In later stages of the disease, you may develop serious conditions such as:

* Cirrhosis — a condition marked by irreversible scarring of the liver
* Liver failure
* Liver cancer
* Diabetes
* Congestive heart failure
* Cardiac arrhythmia
* Discolored skin that's bronze or gray in appearance

DIAGNOSIS

histopathology
radiology
NMR
laboratory tests

PATHOGENESIS

PATIENT RISK FACTORS

Vascular

Genetic

Acquired

Hormonal

Genetic

Acquired

TISSUE SPECIFIC RISK FACTORS

anatomical (due its structure)

vascular (due to the local circulation)

physiopathological (due to tissue function and activity)

COMPLICATIONS

H and wound healing

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