Hemochromatosis physical examination

Hemochromatosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemochromatosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hemochromatosis physical examination On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hemochromatosis physical examination

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hemochromatosis physical examination

CDC on Hemochromatosis physical examination

Hemochromatosis physical examination in the news

Blogs on Hemochromatosis physical examination

Directions to Hospitals Treating Hemochromatosis

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[edit | edit source]

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[edit | edit source]

* 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

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 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)

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[edit | edit source]

1. ↑ 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.
2. ↑ 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.CS1 maint: Multiple names: authors list (link)
3. ↑ 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.CS1 maint: Multiple names: authors list (link)

Template:WH Template:WS