Biomedical Sciences, Biomed Biopharm Res., 2021; 18(2):158-163

doi: 10.19277/bbr.18.2.263; download pdf version [+] here; Portuguese html [+] here

Hereditary Hemochromatosis (Clinical case)

Bruno Sousa ^1,2,3, Nelson Tavares ^1,2*

¹School of Sciences and Health Technologies, Universidade Lusófona de Humanidades e Tecnologias, Lisboa, Portugal; ²CBIOS – Universidade Lusófona's Research Center for Biosciences and Health Technologies, Lisboa, Portugal; ³Health Service of Autonomous Region of Madeira, Madeira, Portugal

* corresponding author (current affiliation): nelsontavares@natiris.pt 

A sixty-eight-year-old retired man was sent for Nutrition Consultation by his family doctor due to hereditary hemochromatosis (homozygosity H63D) and other pathologies that require nutritional therapy. He was also sent to a Transfusion Medicine and Rheumatology Consultation.

Keywords: hereditary hemochromatosis, excess iron absorption, organ and tissue damage

Received: 10/07/2021; Accepted: 24/10/2021

Anthropometric assessment

Weight: 109.8 kg

Height: 170 cm

BMI: 38 kg/m²

Waist circumference: 129 cm

Body composition assessment (TANITA TBF 300^®)

Body fat: 45.8%

Fat mass: 50.3 kg

Fat-free mass: 59.5 kg

Total body water: 43.6 kg

Analytical Parameters

Hematology

Leukocytes: 9.0 10^3/μL (4.5 - 110)

Erythrocytes: 4.59 10^6/μL (4.50 - 6.50)

Hemoglobin: 14.9 g/dL (13.0 – 18.0)

Hematocrit: 44.0% (40.0 - 54.0)

Glycated hemoglobin (A1C): 5.8% (4.0 - 6.0)

Prothrombin time: 27.9 sec (9.4 - 12.5)

INR: 2.34 (0.9-1.2)

Biochemistry

Glucose: 97 mg/dL (82.0 - 115.0)

Urea: 43 mg/dL (8.0 – 50.0)

Creatinine: 1.07 mg/dL (0.70 – 1.20)

Uric acid 6.4 mg/dL (4.8 - 8.0)

Total cholesterol: 180 mg/dL (<200.0)

HDL cholesterol: 32.0 mg/dL (>40.0)

LDL cholesterol: 120.8 mg/dL (<115.0)

Triglycerides: 136.0 mg/dL (<150.0)

Alanine Aminotransferase: 55.7 U/L (17.0 - 63.0)

Aspartate Aminotransferase: 40.6 U/L (10.0 – 50.0)

Gamaglutamyltransferase: 45.6 U/L (7.0 – 50.0)

Iron: 130.0 μg/dL (45.0 - 182.0)

C-reative protein: 2.98 mg/L (< 6.10)

Hormonology

Thyroid function:

Free T4: 1.3 ng/dL (0.6 - 1.7)

TSH: 1.39 μUI/mL (0.30 - 4.70)

Anemias

Ferritin: 286.0 ng/mL (30.0 - 400.0)

Folic acid: 5.45 ng/mL (>3.89)

Vitamin B12: 563 pg/ml (197 - 771)

Clinical evaluation

Personal background

- Acute myocardial infarction approximately three years ago

- Mixed dyslipidemia

- Severe hepatic steatosis

- Atrial Fibrillation

- HTA

- Class II obesity

- Obstructive Sleep Apnea Syndrome

Medication

Omeprazol 20 mg; Paracetamol 1 g; Atorvastatina 20 mg; Enalapril/hidroclorotiazida 20 mg/12,5 mg; Sintrom 4 mg; Bisoprolol 2,5 mg; Fenofibrato 145 mg; Metformina 850 mg.

Complementary diagnostic tests

• NMR (2013): Left sacroiliitis
• Joint ultrasound (October 2017): no signs of active synovitis
• Electrocardiogram (July/2018): no significant changes
• Echocardiogram (July/2018): examination made difficult by poor acoustic window, mild mitral-aortic degenerative changes + slight left ventricular hypertrophy with preserved systolic function.

Intestinal transit: regular

Eating habits

Wake up at 7 am

Breakfast: 7:30 am

1 cup of semi-skimmed milk (240 ml) with instant blended coffee + 1 dessert spoon of sugar

2 buns + 1 slice of cheese + 1 slice of ham

Lunch: 1:00 pm

Plate: Half a plate of white rice or 3 potatoes + meat or fish (120 g) + cooked vegetables (about 100 g)

Drink beer or water

Afternoon snack: 4:30 pm

1 cup of semi-skimmed milk (240 ml) with instant blended coffee + 1 dessert spoon of sugar

2 buns + 1 slice of cheese + 1 slice of ham

Dinner: 8:00 pm

Identical to lunch

Bedtime snack: 10:30 pm

1 glass of semi-skimmed milk (200 ml)

3 Maria cookies

Go to bed at 11:00 pm

Water consumption: about 1 liter per day

Alcohol habits: about 6 beers a day

Smoking habits: Stopped smoking approximately five years ago

Environment, behavior and social

He is married and lives with his wife.

He spends most of his time at home, where he takes his meals, and is not in the habit of socializing with people other than his household.

He likes to eat bread and mentions that he is careful in the preparation of food, namely, to avoid fried foods.

He has a sedentary activity. He reports difficulty in performing certain activities of daily living, namely putting on shoes.

Questions (answers below)

1. What is hereditary hemochromatosis?
2. How can hereditary hemochromatosis be identified?
3. What are the symptoms of hemochromatosis?
4. How can complications from hereditary hemochromatosis be prevented?
5. What dietary changes will help prevent complications?

Authors Contributions Statement

The contribution to the preparation of this Case Study was identical for both authors.

Acknowledgements

The authors wish to express their thanks to the patient who allowed the elaboration of the case study.

Conflict of Interests

The authors declare there are no financial and personal relationships that could present a potential conflict of interests.

Answers

1. Hereditary hemochromatosis is a hereditary disease characterized by excessive iron absorption (in the skin, heart, liver, pancreas, pituitary gland, and joints) due to hepcidin deficiency. Too much iron is toxic to the body. It results in tissue damage and can cause liver disorders such as cirrhosis and hepato-cellular carcinoma, cardiomyopathy, arthropathy, diabetes and hypogonadism.
2. Through a biochemical analysis with the measurement of serum levels of ferritin and iron, and a molecular diagnostic test for hereditary hemochromatosis to confirm the diagnosis. Non-invasive tests such as MRI T2 can also be performed to quantify hepatic iron deposition.
3. Fatigue, joint pain, grayish hyperpigmentation of the skin, abdominal pain and loss of sexual desire.
4. Perform routine biochemical analysis with serum determination of ferritin and iron, and when necessary perform phlebotomy and iron chelation therapy.
5. A diet low in iron as well as alcohol abstinence. It is equally important to warn against vitamin supplementation, namely iron, vitamin C or multivitamins. Since it has other pathologies such as obesity, hypertension and dyslipidemia, it is important to have a low-calorie diet with low levels of sodium and saturated fat.

References / Referências

1. Kowdley, K. V., Brown, K. E., Ahn, J., & Sundaram, V. (2019). ACG Clinical Guideline: Hereditary Hemochromatosis. The American journal of gastroenterology, 114(8), 1202–1218. https://doi.org/10.14309/ajg.0000000000000315
2. Porter, J. L., & Rawla, P. (2021). Hemochromatosis. In StatPearls. StatPearls Publishing.PMID: 28613612.
3. Raymond, J.L., Morrow, K. (2020). Krause and Mahan's Food & the Nutrition Care Process(15th ed). Saunders.