Hemochromatosis history and symptoms

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

Overview

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:

Fatigue (feeling very tired)
Weakness
Weight loss
Abdominal pain
Joint pain

As iron builds up in the body organs, hemochromatosis may also produce the following symptoms:

Loss of menstrual periods or early menopause
Loss of sex drive (libido) or impotence
Loss of body hair
Shortness of breath
Infections

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
Nervous system	CNS	Abnormal gait Dementia	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	Amenorrhea 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 wrist knee	Pain Stiffness Arthritis Joint swelling	Decreased ROM Stiffness improve with rest	Deposition of iron in articular cartilage Chondrocalcinosis
Cardiovascular	Heart Blood vessels	Asymptomatic heart failure Palpitation Hypertension	Diastolic dysfunction Arrhythmias Dilated cardiomyopathy	Deposition of iron in cardiac tissue and blood vessels
Gastrointestinal	Liver	Fatigue Fatty diarrhea Itching Jaundice Weight loss	Hepatomegaly Liver failure (ascites, encephalopathy) Liver cancer Splenomegaly Cutaneous stigmata of chronic liver disease	Deposition of iron in liver
Gastrointestinal	Gallbladder	Right upper abdominal pain	Tender hepatomegaly	Multiple blood transfusion leading to hemochromatosis

References

↑ Iron Overload and Hemochromatosis Centers for Disease Control and Prevention
↑ Hemochromatosis National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services
↑ Hemochromatosis-Signs and Symptoms Mayo Foundation for Medical Education and Research (MFMER)
↑ 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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[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)

[Jones_1983-4] 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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