Hoffmann syndrome

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Hoffmann syndrome

Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy).

Contents

It was first documented in 1897 by Johann Hoffmann. [1] It has adult-onset symptoms. It is comparable to the childhood-onset Kocher–Debré–Semelaigne syndrome. It is caused by low thyroid hormones (T3 and T4) with elevated TSH. [2] [3] [4] [5]

Signs and symptoms

Signs and symptoms include exercise intolerance, muscle fatigue, muscle cramps, myalgia, delayed muscle relaxation (pseudomyotonia), proximal muscle weakness, delayed deep tendon reflexes (hyporeflexia) especially of the ankles, and a pseudoathletic appearance of hypertrophic calf muscles. There may also be bradycardia, mild anemia, dry skin, hoarse voice, and cold intolerance. EMG may be normal, neuropathic, myopathic, or mixed type. Serum CK may be normal or raised. The sign of myoedema (raised muscle tissue in response to percussive tactile stimulus) may be observed. Treatment is thyroid hormone replacement therapy, and prognosis is generally good. Hypertrophic calves typically return to normal after approximately 3 months of treatment. [2] [3] [4] [5] [6]

Cause

It is caused by low thyroid hormones (T3 and T4). [2] [3] [4] [5]

Diagnosis

Muscle biopsy of hypothyroid myopathy shows atrophy of type II (fast-twitch/glycolytic) muscle fibres and a predominance of type I (slow-twitch/oxidative) muscle fibres; as well as abnormally high glycogen accumulation. [7] [8] [9] The reason for the muscle hypertrophy in Hoffmann syndrome is not clearly established; it may be due to altered carbohydrate metabolism, mucoid deposits, or glycosaminoglycan deposits. [3] [7] In an individual diagnosed with Hoffmann syndrome whose hypertrophy did not improve after thyroid hormone replacement therapy, muscle biopsy showed hypertrophy of muscle fibres with increased nuclei, few necrotic fibres and mucoid deposits in places. [6]

Differential diagnoses

Diseases known to have a pseudoathletic appearance of the calves (hypertrophy or pseudohypertrophy), including exercise intolerance and/or muscle weakness:

Thyroid metabolism can be disrupted secondary to a primary disease. A common comorbidity of the metabolic myopathy McArdle disease (Glycogen storage disease type V) is hypothyroidism. [14] [15] It is also a comorbidity of late-onset Pompe disease (Glycogen storage disease type II). [16] [17] As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important to keep in mind differential diagnoses and their comorbidities when trying to determine whether signs and symptoms are either primary or secondary disease. [7] [8] [9] [18] [19]

Management

References

  1. "Myopathies associated with thyroid disease". MedLink Neurology. Retrieved 2023-05-28.
  2. 1 2 3 Vignesh, G; Balachandran, K; Kamalanathan, S; Hamide, A (March 2013). "Myoedema: A clinical pointer to hypothyroid myopathy". Indian Journal of Endocrinology and Metabolism. 17 (2): 352. doi: 10.4103/2230-8210.109672 . PMC   3683223 . PMID   23776921.
  3. 1 2 3 4 5 Mangaraj, S; Sethy, G (October 2014). "Hoffman's syndrome - A rare facet of hypothyroid myopathy". Journal of Neurosciences in Rural Practice. 5 (4): 447–8. doi: 10.4103/0976-3147.140025 . PMC   4173264 . PMID   25288869.
  4. 1 2 3 Udayakumar, N; Rameshkumar, AC; Srinivasan, AV (October 2005). "Hoffmann syndrome: presentation in hypothyroidism". Journal of Postgraduate Medicine. 51 (4): 332–3. PMID   16388183.
  5. 1 2 3 Vasconcellos, LF; Peixoto, MC; de Oliveira, TN; Penque, G; Leite, AC (September 2003). "Hoffman's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Case report". Arquivos de Neuro-psiquiatria. 61 (3B): 851–4. doi: 10.1590/s0004-282x2003000500027 . PMID   14595495.
  6. 1 2 Qureshi, Waseem; Hassan, Ghulam; Khan, Ghulam Qadir; Kadri, Syed Manzoor; Kak, Manish; Ahmad, Manzoor; Tak, Shahid; Kundal, Darshan Lal; Hussain, Showkat; Rather, Abdul Rashid; Masoodi, Ibrahim; Sikander, Sabia (2005-07-20). "Hoffmann's syndrome: a case report". GMS German Medical Science. 3: Doc05. ISSN   1612-3174. PMC   2703243 . PMID   19675722.
  7. 1 2 3 Rodolico, Carmelo; Bonanno, Carmen; Pugliese, Alessia; Nicocia, Giulia; Benvenga, Salvatore; Toscano, Antonio (2020-09-01). "Endocrine myopathies: clinical and histopathological features of the major forms". Acta Myologica. 39 (3): 130–135. doi:10.36185/2532-1900-017. ISSN   1128-2460. PMC   7711326 . PMID   33305169.
  8. 1 2 Fariduddin, Maria M.; Bansal, Nidhi (2023), "Hypothyroid Myopathy", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID   30137798 , retrieved 2023-05-28
  9. 1 2 Dimitriadis, G D; Leighton, B; Parry-Billings, M; West, D; Newsholme, E A (1989-01-15). "Effects of hypothyroidism on the sensitivity of glycolysis and glycogen synthesis to insulin in the soleus muscle of the rat". Biochemical Journal. 257 (2): 369–373. doi:10.1042/bj2570369. ISSN   0264-6021. PMC   1135589 . PMID   2649073.
  10. Rodríguez-Gómez, I.; Santalla, A.; Díez-Bermejo, J.; Munguía-Izquierdo, D.; Alegre, L. M.; Nogales-Gadea, G.; Arenas, J.; Martín, M. A.; Lucía, A.; Ara, I. (November 2018). "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037–1042. doi:10.1007/s10545-018-0170-7. hdl: 10578/19657 . ISSN   1573-2665. PMID   29594644. S2CID   4394513.
  11. Menon, M. Suraj; Roopch, P. Sreedharan; Kabeer, K. Abdulkhayar; Shaji, C. Velayudhan (July 2016). "Calf Muscle Hypertrophy in Late Onset Pompe's Disease". Archives of Medicine and Health Sciences. 4 (2): 251. doi: 10.4103/2321-4848.196188 . ISSN   2321-4848. S2CID   58424073.
  12. Stunnenberg, Bas C.; LoRusso, Samantha; Arnold, W. David; Barohn, Richard J.; Cannon, Stephen C.; Fontaine, Bertrand; Griggs, Robert C.; Hanna, Michael G.; Matthews, Emma; Meola, Giovanni; Sansone, Valeria A.; Trivedi, Jaya R.; van Engelen, Baziel G.M.; Vicart, Savine; Statland, Jeffrey M. (October 2020). "Guidelines on clinical presentation and management of nondystrophic myotonias". Muscle & Nerve. 62 (4): 430–444. doi:10.1002/mus.26887. ISSN   0148-639X. PMC   8117169 . PMID   32270509.
  13. de Visser, Marianne (2020-12-01). "Late-onset myopathies: clinical features and diagnosis". Acta Myologica. 39 (4): 235–244. doi:10.36185/2532-1900-027. ISSN   1128-2460. PMC   7783434 . PMID   33458579.
  14. Scalco, Renata S.; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia; Voermans, Nicol C.; Kouwenberg, Carlyn V.; Laforêt, Pascal; San-Millán, Beatriz; Vieitez, Irene; Siciliano, Gabriele; Kühnle, Enrico (2020-11-24). "Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)". Orphanet Journal of Rare Diseases. 15 (1): 330. doi: 10.1186/s13023-020-01562-x . ISSN   1750-1172. PMC   7687836 . PMID   33234167.
  15. Lucia, Alejandro; Martinuzzi, Andrea; Nogales-Gadea, Gisela; Quinlivan, Ros; Reason, Stacey; International Association for Muscle Glycogen Storage Disease study group (December 2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group". Neuromuscular Disorders. 31 (12): 1296–1310. doi: 10.1016/j.nmd.2021.10.006 . hdl: 11268/11047 . ISSN   1873-2364. PMID   34848128. S2CID   240123241.
  16. Schneider, Joseph; Burmeister, Lynn A.; Rudser, Kyle; Whitley, Chester B.; Jarnes Utz, Jeanine (September 2016). "Hypothyroidism in late-onset Pompe disease". Molecular Genetics and Metabolism Reports. 8: 24–27. doi:10.1016/j.ymgmr.2016.06.002. ISSN   2214-4269. PMC   4932620 . PMID   27408821.
  17. Fatehi, Farzad; Ashrafi, Mahmoud Reza; Babaee, Marzieh; Ansari, Behnaz; Beiraghi Toosi, Mehran; Boostani, Reza; Eshraghi, Peyman; Fakharian, Atefeh; Hadipour, Zahra; Haghi Ashtiani, Bahram; Moravej, Hossein; Nilipour, Yalda; Sarraf, Payam; Sayadpour Zanjani, Keyhan; Nafissi, Shahriar (2021). "Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus". Frontiers in Neurology. 12: 739931. doi: 10.3389/fneur.2021.739931 . ISSN   1664-2295. PMC   8490649 . PMID   34621239.
  18. Celsing, F.; Blomstrand, E.; Melichna, J.; Terrados, N.; Clausen, N.; Lins, P. E.; Jansson, E. (April 1986). "Effect of hyperthyroidism on fibre-type composition, fibre area, glycogen content and enzyme activity in human skeletal muscle". Clinical Physiology. 6 (2): 171–181. doi:10.1111/j.1475-097x.1986.tb00066.x. ISSN   0144-5979. PMID   2937605.
  19. Brenta, Gabriela (2011). "Why can insulin resistance be a natural consequence of thyroid dysfunction?". Journal of Thyroid Research. 2011: 152850. doi: 10.4061/2011/152850 . ISSN   2042-0072. PMC   3175696 . PMID   21941681.