Hemochromatosis physical examination: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Hemochromatosis}} | {{Hemochromatosis}} | ||
{{CMG}}; {{AE}} | {{CMG}} {{shyam}}; {{AE}} | ||
==Overview== | ==Overview== | ||
Physical examination of hemochromatosis disease depends on the involved organ are: fatigue in [[Congestive heart failure|heart failure]], [[erectile dysfunction]] and [[hypogonadism]] in gonadal involvements, [[amenorrhea]] in [[Pituitary adenoma|pitutary]], [[arthritis]] in [[joints]] involvement. | |||
==Physical Examination== | ==Physical Examination== | ||
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*[[Dyskinesia]]s, including [[Parkinsonian]] symptoms<ref name="Costello_2004">{{cite journal |author=Costello D, Walsh S, Harrington H, Walsh C |title=Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series |journal=J Neurol Neurosurg Psychiatry |volume=75 |issue=4 |pages=631-3 |year=2004 |pmid=15026513}}</ref><ref name="Jones_1983" /><ref name="Nielsen_1995">{{cite journal |author=Nielsen J, Jensen L, Krabbe K |title=Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome |journal=J Neurol Neurosurg Psychiatry |volume=59 |issue=3 |pages=318-21 |year=1995 |pmid=7673967}}</ref> | *[[Dyskinesia]]s, including [[Parkinsonian]] symptoms<ref name="Costello_2004">{{cite journal |author=Costello D, Walsh S, Harrington H, Walsh C |title=Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series |journal=J Neurol Neurosurg Psychiatry |volume=75 |issue=4 |pages=631-3 |year=2004 |pmid=15026513}}</ref><ref name="Jones_1983" /><ref name="Nielsen_1995">{{cite journal |author=Nielsen J, Jensen L, Krabbe K |title=Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome |journal=J Neurol Neurosurg Psychiatry |volume=59 |issue=3 |pages=318-21 |year=1995 |pmid=7673967}}</ref> | ||
* Dysfunction of certain [[endocrine organs]]: | * Dysfunction of certain [[endocrine organs]]: | ||
** [[Pancreas|Pancreatic gland]], as above, manifesting as [[diabetes]] | ** [[Pancreas|Pancreatic gland]], as above, manifesting as [[diabetes]] (from endocrine dysfunction) or indigestion (from exocrine dysfunction) | ||
** [[Adrenal gland]] (leading to [[adrenal insufficiency]]) | ** [[Adrenal gland]] (leading to [[adrenal insufficiency]]) | ||
** [[Parathyroid gland]] (leading to [[hypocalcaemia]]) | ** [[Parathyroid gland]] (leading to [[hypocalcaemia]]) | ||
| Line 26: | Line 27: | ||
!Signs | !Signs | ||
!Mechanisum | !Mechanisum | ||
|- | |- | ||
| rowspan="2" |Nervous system | | rowspan="2" |Nervous system | ||
| Line 35: | Line 35: | ||
Hyporeflaxia decreased power | Hyporeflaxia decreased power | ||
|Axonal sensory motor polyneuropathy | |Axonal sensory motor polyneuropathy | ||
|- | |- | ||
|CNS | |CNS | ||
|Abnormal gait | |Abnormal gait | ||
Dementia | [[Dementia]] | ||
|Dyskinesias( | |Dyskinesias(Parkinsonian syndrome Multiple sclerosis) | ||
Cognitive decline | |||
|Deposition of iron in basal ganglia | |Deposition of iron in basal ganglia | ||
|- | |- | ||
| | | rowspan="4" |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 [[hypothyroidism]] | ||
| | |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 joint|Metacarpophalangeal]] (especially 2nd and 3rd MCP joints) | |||
[[Proximal interphalangeal 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 | |||
|- | |||
| rowspan="2" |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 | ||
|} | |} | ||
Latest revision as of 18:10, 1 January 2019
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Hemochromatosis Microchapters |
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Hemochromatosis physical examination On the Web |
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American Roentgen Ray Society Images of Hemochromatosis physical examination |
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Risk calculators and risk factors for Hemochromatosis physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief:
Overview
Physical examination of hemochromatosis disease depends on the involved organ are: fatigue in heart failure, erectile dysfunction and hypogonadism in gonadal involvements, amenorrhea in pitutary, arthritis in joints involvement.
Physical Examination
- Erectile dysfunction and hypogonadism
- Congestive heart failure, arrhythmias or pericarditis
- Deafness[1]
- Dyskinesias, including Parkinsonian symptoms[2][1][3]
- Dysfunction of certain endocrine organs:
- Pancreatic gland, as above, manifesting as diabetes (from endocrine dysfunction) or indigestion (from exocrine dysfunction)
- Adrenal gland (leading to adrenal insufficiency)
- Parathyroid gland (leading to hypocalcaemia)
- Pituitary gland
- Testes or ovary (leading to hypogonadism)
- A darkish color to the skin (see pigmentation, hence its name Diabete bronze )
Males are usually diagnosed after their forties, and women about a decade later, owing to regular iron loss by menstruation (which ceases in menopause). Cases of iron overload have been found in young children as well.
| 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 |
Amenorrhea
Erictle dysfuntion |
Deposition of iron in pituitary gland |
| Thyroid gland | Fatigue | Signs of hypothyroidism | 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
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 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
- ↑ 1.0 1.1 Jones H, Hedley-Whyte E (1983). "Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs". Neurology. 33 (11): 1479–83. PMID 6685241.
- ↑ Costello D, Walsh S, Harrington H, Walsh C (2004). "Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series". J Neurol Neurosurg Psychiatry. 75 (4): 631–3. PMID 15026513.
- ↑ Nielsen J, Jensen L, Krabbe K (1995). "Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome". J Neurol Neurosurg Psychiatry. 59 (3): 318–21. PMID 7673967.