Alkaptonuria is a rare inherited condition of autosomal recessive pattern in which urine turns black on exposure to air. According to genetic house library- a service of U S national library of medicine, the condition affects 1 in 250000 to 1 million people worldwide. Another feature of this disease is Ochronosis which occurs later in life possibly after 30 years of age. It is the build up of blue black pigmentation in connective tissues such as cartilage and skin. It is known that mutations in HGD gene cause alkaptonuria. The HGD gene provides instructions for making enzyme Homogentisate oxidase which helps breakdown of amino acids phenyl alanine and tyrosine. The mutated HGD gene impairs the enzyme and consequently a substance homogentisic acid which is produced by the breakdown of above amino acid accumulates in the body. Cartilage and skin darken when excess homogentisic acid and related compounds are deposited in connective tissues. Later the accumulation of this substance in joints leads to arthritis. Homogentisic acid excreted in urine makes urine turn black when exposed to air. Complications of pigment deposition in fourth decade of life can lead to complications like severe Arthritis, calcified lumbar discs, Ankylosis, calcification of ear cartilage and aortic or mitral valvulitis. Life expectancy is normal but associated with morbidity.
Presentation of the case:
A 52 years old lady, tailor by profession, presented stiffness of cervico thoracic spine in 2013. She experienced difficulty to bend the body forward immediately after waking up after sleep and also after rest. She also complained about discomfort of straightening the body after sitting few hours. Kyphosis of dorsal spine and lordosis of lumbar spine conspicuous on standing diminished on lying down. Scapular pain and heel pain associated with calcaneal tendinitis were present for the past 6 months.
History of Present illness: Black urine was experienced since childhood and diagnosed as Alkaptonuria by senior Orthopaedician from private hospital Thrissur. Stiffness and pain started only 5 years back. Used modern medicines occasionally only during increased stiffness and pain.
Physical examination of patient on 19/08/2013 Cardio vascular and Respiratory systems –normal. She is neither diabetic nor hypertensive.
Investigations: Blood and urine -reports for routine examination showed normal values. ESR, Serum calcium, TSH, Serum Cholesterol –all normal except Serum phosphorus showed mild elevation 4.6mg (Normal 2.5 – 4.5mg). Since the results of Homogentisic acid in urine was very old, it is rechecked in May 2013 and found positive.
Plain X- ray (2013) showed degenerative discs- L1/L2 to L5/S1 level.
MRI report (October 2007) Mild kyphoscoliosis. Gross degenerative changes of LS Spine. Endplate degeneration to inferior endplate of L1 vertebra. Desiccated discs seen at all levels. Diffuse disc bulge at L2/ L3 with bilateral foraminal stenosis. Ligamentum flavum thickening at L4/L5 level.
Food – Mixed diet. Appetite – Normal. Bowels -Slightly constipated. Micturition: 5 -6 times during daytime. Menopause at 50 years. Sleep – Normal. Exercise – Reduced recently. Allergy & Addiction -Nil Body weight – 53kg.
Objective of treatment
Understanding the fact that Alkaptonuria is a rare genetic disorder and not curable the treatment plan was designed to improve the quality of life of the patient ie; mainly to reduce the pain and stiffness of spine which hamper her in day to day work.
Concept of treatment
Actually there is no known established methodology in Ayurveda to treat this rare genetic disorder in the opinion of senior physicians. The mainstream medicines of treatment used in this condition were Drakshadi kashaya and Punarnavadi kashaya. Drakshadi kashaya- Pithasamana by nature can correct errors in Dhathuparinama and regulate proper sara kitta vibhajana. On the other hand Punarnavadi Kashaya imparting srothosodhana augments the excretion of metabolic waste from the body. In other words sakhasritha doshas are brought to the koshta and eliminated.
Kalyanaksharam helps in reducing the excess acidity formed in the body during irregular metabolisam.
Application of Snehana, Swedana and Sodhana was aimed to relieve Vathavikaras especially Sthambha, Graha and Ruja.
OP Treatment -Given for 3months prior to admission to hospital.
Drakshadi kashaya (selected dravyas) made at home -mixed with 15ml Punarnavadi kashaya (purchased) – twice daily (morning and evening) before food .
Chandraprapha gulika one each and 10ml honey along with kashaya
Kalyanaksharam -3 gm-in water prepared with Punarnava( after breakfast).
Sahacharadi thailam and Prasaranyadi thailam -daily applied whole body, rested for 45 minutes, fomented for 5-10 minutes on cervical, dorsal and lumbar spine.
Fomentation was given whenever there is severe pain and stiffness.
Regimen : Non – vegetarian, spicy and cold food abstained. Bakery and hotel food avoided. Reduced protein intake
Results: She reported improvement in symptoms.
I P Treatment
The main intention was to improve the flexibility of dorso-lumbar spine using Ayurvedic modalities snehana, swedana and sodhana chikitsa.
- Samvahanam- using Prasaranyadi tailam and Sahacharadi thailam (7days)– was provided especially on the spine.
- Abhyangam and Bashpa swedam – (7days) -same tailas used. Bandhanam-Bandaged the calcaneal region using Murivenna.
- Choornapindaswedam- (10days) using Kolakulathadi choornam –Sathapushpachoornam etc
- Anuvasanam -3days using Satahwadi Thailam (100,120,150ml)
- Niroohavasthi -1 No Kashaya (made from Dasamoolam , Bala, Sahachara, Guloochi), Madhu, Siandhavam, Sathahwadi thailam and Sathapushpa kalkam ). Retained for 15mts. To conclude the course of treatment another Anuvasana(100ml) with Sathahwadi thailam was given.
Duration of I P Treatment : 25 days
Status at the time of discharge – symptomatically she felt better ,Kyphotic posture diminished. Intial stiffness on change of posture reduced. Discharged and advised further internal medicines and pathyahara-viharas.
Reviews – 1month and 3 month after discharge showed the sustenance of improvement. Medicines stopped except thailam for abhyangam.
Future Plan: She is advised to undergo IP treatments whenever stiffness and pain aggravate, otherwise once annually. Also recommended internal medicines including Kashaya,3-4 courses in an year to maintain mobility and wellness.