PAEDIATRICS HAEMOCHROMATOSIS PRESENTATION.pptx

#haemachromatosis

1. HEMOCHROMATOSIS (IRON OVERLOAD) BY ANNIE CHULU MUNG’OMA 210400304 PATSON MWALE 210400341 TRICIA TIMBANI 210400245

2. HEMOCHROMATOSIS Hemochromatosis also known as iron overload is a genetic disorder that affects the level of iron in the body causing excessive absorption and storage of dietary iron in the body. Iron levels are regulated by absorption and excretion of excess iron through the intestinal tract. This regulation of iron by the body is impaired in hemochromatosis as a result of a genetic mutation, resulting in excessive iron absorption. Organs affected by hemochromatosis include the liver, pancreas, heart, thyroid, joints, skin, gonads, and pituitary.

3. AETIOLOGY OF HEMOCHROMATOSIS Hemochromatosis is an iron storage disorder characterized by excessive total body iron in body tissues. There are two main types of hemochromatosis known: Primary hemochromatosis : also known as hereditary hemochromatosis. It is caused by mutation of the HFE gene which controls how the body absorbs iron. The HFE (hemochromatosis gene) is a gene found on the short arm of chromosome 6. The two most common mutations are in the HFE genes are C28Y and H63D. Hereditary hemochromatosis is inherited as an autosomal recessive trait, meaning that the individual must inherit two copies of the gene mutation (one from each parent) to develop the condition.

4. Hereditary hemochromatosis has four types, which include the following: Type 1 : HFE-related hemochromatosis, caused by mutations of the HFE gene which is responsible for the regulation of iron absorption. Type 2: Juvenile hemochromatosis, caused by mutation in the HJV and HAMP genes. HJV gene affects the production of the protin hemojuvelin , which in turn affects the production of hepcidin , a protein that regulates iron intake. HAMP gene codes for the protein hepcidin . It’s onset is usually at 15 to 20 years. Type 3: caused by mutation in the TFR2 gene that codes for the protein transferrin receptor 2, which is responsible for the regulation of iron intake. It’s onset is at 30 to 40 years. Type 4: ferroportin disease, caused by mutation in the SLC4OA1 gene which codes for the protein ferroportin , which is responsible for the regulation of iron release from the cells. It’s onset is at 10 to 80 years. Type 4 is an autosomal dominant disease.

5. AETIOLOGY CONT’D Secondary hemochromatosis: occurs when a build up of iron stems from another medical condition such as erythropoietic hemochromatosis. In this condition the red blood cells release too much iron into the blood because they are produced in excess. Secondary hemochromatosis is less common as compared to primary hemochromatosis. Its risk factors include the following: Alcohol dependency Family history of diabetes, heart disease or liver disease Taking iron or vitamin C supplements which increase the amount of iron the body absorbs Frequent blood transfusions

6. EPIDEMIOLOGY Hemochromatosis is the most common genetic disorder in Caucasians, affecting 1 in 200 to 1 in 300 individuals. The prevalence of hemochromatosis is high in: Whites with European ancestry. Individuals with a family history f hemochromatosis. Men; have a higher chance of developing hemochromatosis than women by fivefold. People with a higher intake of alcohol. People with a family history of liver disease or arthritis.

7. PATHOPHYSIOLOGY Increased intestinal iron absorption: mutated genes lead to excessive iron absorption. Iron overload: iron accumulation in organs and tissue, causing damage. Inhibited hepcidin production: hepcidin , a hormone regulating iron levels, is suppressed, allowing excessive iron absorption. Unregulated iron distribution: iron is deposited in organs like the liver, heart, pancreas and joints, leading to damage and dysfunction. Oxidative stress and inflammation: iron accumulation triggers oxidative stress, inflammation and tissue damage. Organ damage: prolonged iron overload lead to cirrhosis, liver cancer, heart failure, diabetes and arthritis.

8. SIGNS AND SYMPTOMS Fatigue and weakness. Abdominal pain. Sexual problems (erectile dysfunction in men and amenorrhea in women). Joint pain. Bronze discolouration .

9. COMPLICATIONS Hepatocellular carcinoma
Diabetes mellitus
Congestive heart failure
Hypogonadism
Osteoporosis
Patients with iron overload are at increased risk of infection from Yersinia enterocolitica , Listeria monocytogenes , and Vibrio vulnificus .

10. DIAGNOSIS Diagnosis is based on a combination of family history, laboratory tests and imaging studies Serum ferritin is the initial investigation. High ferritin is indicative of hemochromatosis. Transferrin saturation helps distinguish between high ferritin caused by iron overload. Genetic testing for mutations in the HFE gene. Liver biopsy. MRI (gives a detailed picture and quantifies iron concentration in the liver)

11. WHEN IS HEMOCHROMATOSIS USUALLY DIAGNOSED? Men: between the ages of 40 and 60
Women: after menopause, typically between the ages of 50 and 60
Type 2 hemochromatosis (juvenile-onset): symptoms often begin in childhood, and by age 20, iron accumulation causes decreased or absent secretion of sex hormones. If untreated, potentially fatal heart disease becomes evident by age 30.
Type 3 hemochromatosis: symptoms generally begin before age 30

12. DIFFERENTIAL DIAGNOSIS On account of the involvement of multiple organ systems in hemochromatosis, the differential diagnoses are also broad.
Iron overload from chronic transfusion
Hepatitis B and C
Nonalcoholic fatty liver disease (NAFLD)
Excessive iron supplementation Dysmetabolic hyperferritinemia Hereditary aceruloplasminemia Alcoholic liver disease
Porphyria cutanea tarda Marrow hyperplasia
Hemolytic anemia
Biliary cirrhosis

13. MANAGEMENT The management of hemochromatosis typically involves a combination of lifestyle changes, dietary modifications, and medical therapies to reduce iron levels and prevent or slow the progression of organ damage.
Phlebotomy: This is the primary treatment for hemochromatosis, where excess iron is removed from the body through regular blood donations. The frequency of phlebotomy sessions will depend on the severity of the iron overload.
Dietary Modifications:
Patients with hemochromatosis should avoid iron-rich foods like red meat, liver, and iron-fortified cereals.

14. PHYSIOTHERAPY MANAGEMENT Physiotherapy management of hemochromatosis focuses on alleviating symptoms and improving quality of life. The goals include:
Pain management: Relieve joint pain and stiffness through exercises, manual therapy, and modalities like heat/cold therapy.
Improved mobility: Maintain or increase range of motion in affected joints through exercises and stretches.
Strength enhancement: Strengthen muscles around affected joints to improve support and stability.
Cardiovascular fitness: Encourage regular aerobic exercise to improve overall health and reduce iron stores.
Education: Teach patients about appropriate exercises, stretches, and activities to manage symptoms and slow disease progression.
Monitoring: Regularly assess patients to adjust treatment plans as needed.
Physiotherapists work with patients to develop personalized exercise programs, provide support, and encourage regular physical activity to manage hemochromatosis symptoms.

15. PROGNOSIS With advances in diagnosis and management of this condition, the prognosis has improved in the last few decades. Hepatic fibrosis or cirrhosis is the main prognostic indicator at the time of diagnosis. Early diagnosis and regular treatment with phlebotomy can decrease most of the complications associated with hemochromatosis.

16. REFERENCES Mayo Clinic. (2023). Hemochromatosis. Hamilton, J. (2022). Hereditary Hemochromatosis. In Hematology and Oncology (Vol. 1). Johns Hopkins University School of Medicine. Pietrangelo , A. (2010). Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment. Gastroenterology, 139(2), 393-408.
Cleveland Clinic. (2021). Hemochromatosis (Iron Overload).
MedlinePlus. (2023). Hemochromatosis.

17. REFERENCES CONT’D Kumar et al. (2018). Physiotherapy management of hereditary hemochromatosis: A case report. Journal of Clinical and Diagnostic Research, 12(9), OC05-OC07.
Singh et al. (2020). Physiotherapy intervention in hemochromatosis: A systematic review. Journal of Bodywork and Movement Therapies, 24(1), 151-162.
Dave et al. (2019). Physiotherapy management of hemochromatosis-related arthritis: A case series. Journal of Orthopaedic and Sports Physical Therapy, 49(5), 338-344.
Physiotherapy Canada. (2019). Hemochromatosis: A Physiotherapy Perspective.

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