Hemochromatosis history and symptoms: Difference between revisions

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{{Hemochromatosis}}
{{Hemochromatosis}}
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==Overview==
==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, [[Infection|infections]] and loss of body hair happen. After disease progression, hemochromatosis may cause the following more serious problems such as [[arthritis]], and [[Congestive heart failure|heart failure]].
==History and Symptoms==
==History and Symptoms==
<ref>[http://www.cdc.gov/ncbddd/hemochromatosis/ Iron Overload and Hemochromatosis] Centers for Disease Control and Prevention</ref><ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref><ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=2 Hemochromatosis-Signs and Symptoms] Mayo Foundation for Medical Education and Research (MFMER)</ref>
Symptoms usually begin in age of 30 years. The involvement of specific organ produces subsequent symptoms.<ref>[http://www.cdc.gov/ncbddd/hemochromatosis/ Iron Overload and Hemochromatosis] Centers for Disease Control and Prevention</ref><ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref><ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=2 Hemochromatosis-Signs and Symptoms] Mayo Foundation for Medical Education and Research (MFMER)</ref>


*'''Early indications''' of hemochromatosis are often like those of other diseases and include the following symptoms:
*'''Early indications''' of hemochromatosis are often like those of other diseases and include the following symptoms:
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*As '''iron builds up in the body organs''', hemochromatosis may also produce the following symptoms:
*As '''iron builds up in the body organs''', hemochromatosis may also produce the following symptoms:
:*Loss of menstrual periods or early menopause
:*Loss of menstrual periods or early [[menopause]]
:*Loss of sex drive (libido) or impotence
:*Loss of sex drive (libido) or impotence
:*Loss of body hair
:*Loss of body hair
:*[[Shortness of breath]]
:*[[Shortness of breath]]
 
:*[[Infection|Infections]]
*Although not a physical symptom, another possible indication of hemochromatosis is having an elevated liver enzyme test.


*As the '''disease progresses''', hemochromatosis may cause the following more serious problems:
*As the '''disease progresses''', hemochromatosis may cause the following more serious problems:
:*[[Arthritis]]
:*[[Arthritis]]
:*Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
:*High blood sugar and [[diabetes]]
:*Abdominal pain that does not go away
:*Abdominal pain that does not go away
:*Severe fatigue (feeling extremely tired and having a lack of energy)
:*Severe fatigue (feeling extremely tired and having a lack of energy)
:*Heart problems (such as a heart beat that is not regular)
:*[[Heart failure]] symptoms
:*[[Heart failure]] (such as the heart not pumping blood as well as it did previously)
:*Gray-colored or bronze-colored skin
:*Gray-colored or bronze-colored skin
:*[[Deafness]]<ref name=Jones_1983>{{cite journal |author=Jones H, Hedley-Whyte E |title=Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs |journal=Neurology |volume=33 |issue=11 |pages=1479-83 |year=1983 |pmid=6685241}}</ref>
:*[[Deafness]]<ref name="Jones_1983">{{cite journal |author=Jones H, Hedley-Whyte E |title=Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs |journal=Neurology |volume=33 |issue=11 |pages=1479-83 |year=1983 |pmid=6685241}}</ref>
* A darkish color to the skin (see pigmentation, hence its name '''''Diabete bronze''''' when it was first described by [[Armand Trousseau]] in 1865)
* A darkish color to the skin (see pigmentation, hence its name '''''Diabete bronze''''' when it was first described by [[Armand Trousseau]] in 1865)
{| class="wikitable"
!System involved
!Organs
!Symptom
!Signs
!Mechanisum
|-
| rowspan="2" |Nervous system
|[[Peripheral 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 ([[Parkinsonism|Parkinsonian]] syndrome [[Multiple sclerosis]])
Cognitive decline
|Deposition of iron in [[basal ganglia]]
|-
| rowspan="4" |[[Endocrine]]
|[[Pituitary gland]]
|[[Menstrual cycle|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 [[Congestive heart failure|heart failure]]
[[Palpitation]] [[Hypertension]]
|Diastolic dysfunction
Arrhythmias
Dilated cardiomyopathy
|Deposition of iron in cardiac tissue and blood vessels
|-
| rowspan="2" |[[Gastrointestinal]]
|[[Liver]]
|[[Fatigue (physical)|Fatigue]]
Fatty [[diarrhea]]
[[Itching]]
[[Jaundice]]
[[Weight loss]]
|[[Hepatomegaly]]
[[Liver failure]] ([[ascites]], [[encephalopathy]])
[[Liver tumor|Liver cancer]]
[[Splenomegaly]]
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==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Gastroenterology]]
[[Category:Cardiology]]
[[Category:Hepatology]]
[[Category:Endocrinology]]
[[Category:Hematology]]
[[Category:Disease]]
{{WH}}
{{WH}}
{{WS}}
{{WS}}
[[Category:Needs content]]

Latest revision as of 18:08, 1 January 2019

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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:
  • 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

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
Gallbladder Right upper abdominal pain Tender hepatomegaly Multiple blood transfusion leading to hemochromatosis

References

  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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