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]
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 |
| 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 | Pain | Decreased ROM
Stiffness improve with rest |
Deposition of iron in articular cartilage
Chondrocalcinosis |
| Cardiovascular | Heart
Blood vessels |
Asymptomatic heart failure | Diastolic dysfunction
Arrhythmias Dilated cardiomyopathy |
Deposition of iron in cardiac tissue and blood vessels |
| Gastrointestinal | Liver | Fatigue
Fatty diarrhea |
Hepatomegaly
Liver failure (ascites, encephalopathy) Cutaneous stigmata of chronic liver disease |
Deposition of iron in liver |
| 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.