Hemochromatosis history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]


Symptoms usually begin in age of 30 years. The involvement of specific organ produces subsequent symptoms. Early symptoms are fatigue and weakness; and as the iron builds up in the body organs, infections and loss of body hair happen. After disease progression, hemochromatosis may cause the following more serious problems such as arthritis, and heart failure.

History and Symptoms

Symptoms usually begin in age of 30 years. The involvement of specific organ produces subsequent symptoms.[1][2][3]

  • Early indications of hemochromatosis are often like those of other diseases and include the following symptoms:
  • As iron builds up in the body organs, hemochromatosis may also produce the following symptoms:
  • As the disease progresses, hemochromatosis may cause the following more serious problems:
  • Arthritis
  • Abdominal pain that does not go away
  • Severe fatigue (feeling extremely tired and having a lack of energy)
  • Heart failure symptoms
  • Gray-colored or bronze-colored skin
  • Deafness[4]
  • A darkish color to the skin (see pigmentation, hence its name Diabete bronze when it was first described by Armand Trousseau in 1865)
System involved Organs Symptom Signs Mechanisum
Nervous system PNS Parastheisa

Loss of motor control

Loss of two point discrimination

Hyporeflaxia decreased power

Axonal sensory motor polyneuropathy
CNS Abnormal gait


Dyskinesias (Parkinsonian syndrome Multiple sclerosis)

Cognitive decline

Deposition of iron in basal ganglia
Endocrine Pituitary gland Menstrual abnormality

Loss of libido

Loss of body hair


Erictle dysfuntion

Deposition of iron in pituitary gland
Thyroid gland Fatigue Signs of hypothyroidsm Deposition of iron in thyroid gland
Pancreas Polyuria polydipsia polyphagia Polyuria polydipsia polyphagia Deposition of iron in pancreas
Adrenal gland Fatigue Polyuria Hypotension Deposition of iron in adrenal gland
Dermatological Skin Cutaneous hyperpigmentation Sun exposed affected mostly with tan of melanin grey

Porphyria cutanea tarda

iron damage skin, melanin hyperactivity responds thus color of melanin
Joints Metacarpophalangeal, especially 2nd and 3rd MCP joints

Proximal interphalangeal






Joint swelling

Decreased ROM

Stiffness improve with rest

Deposition of iron in articular cartilage


Cardiovascular Heart

Blood vessels

Asymptomatic heart failure

Palpitation Hypertension

Diastolic dysfunction


Dilated cardiomyopathy

Deposition of iron in cardiac tissue and blood vessels
Gastrointestinal Liver Fatigue

Fatty diarrhea



Weight loss


Liver failure (ascites, encephalopathy)

Liver cancer


Cutaneous stigmata of chronic liver disease

Deposition of iron in liver
Gallbladder Right upper abdominal pain Tender hepatomegaly Multiple blood transfusion leading to hemochromatosis


  1. Iron Overload and Hemochromatosis Centers for Disease Control and Prevention
  2. Hemochromatosis National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services
  3. Hemochromatosis-Signs and Symptoms Mayo Foundation for Medical Education and Research (MFMER)
  4. Jones H, Hedley-Whyte E (1983). "Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs". Neurology. 33 (11): 1479–83. PMID 6685241.

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